UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.13355939A>T , CM000686.2:g.13355939A>T | GRCh38 |
| NC_000024.9:g.15467819A>T , CM000686.1:g.15467819A>T | GRCh37 |
| NC_000024.8:g.13977213A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382896.9:c.1583T>A | ENSP00000372352.5:p.Phe528Tyr | |
| ENST00000537580.6:c.1493T>A | ENSP00000439922.2:p.Phe498Tyr | |
| ENST00000538878.6:c.1358T>A | ENSP00000445274.2:p.Phe453Tyr | |
| ENST00000540140.6:c.1484T>A | ENSP00000441943.2:p.Phe495Tyr | |
| ENST00000545955.6:c.1649T>A MANE Select | ENSP00000442047.2:p.Phe550Tyr | |
| ENST00000612274.5:c.1493T>A | ENSP00000485013.1:p.Phe498Tyr | |
| ENST00000617789.5:c.1514T>A | ENSP00000483735.1:p.Phe505Tyr | |
| ENST00000618474.5:c.1109T>A | ENSP00000484698.1:p.Phe370Tyr | |
| ENST00000682112.1:c.1358T>A | ENSP00000508171.1:p.Phe453Tyr | |
| ENST00000682216.1:c.1358T>A | ENSP00000507656.1:p.Phe453Tyr | |
| ENST00000682913.1:c.1493T>A | ENSP00000507736.1:p.Phe498Tyr | |
| ENST00000684226.1:c.485T>A | ENSP00000507919.1:p.Phe162Tyr | |
| ENST00000329134.9:c.1358T>A | ENSP00000330446.5:p.Phe453Tyr | |
| ENST00000331397.8:c.1358T>A | ENSP00000328939.4:p.Phe453Tyr | |
| ENST00000362096.8:c.1358T>A | ENSP00000355420.4:p.Phe453Tyr | |
| ENST00000382896.8:c.1493T>A | ENSP00000372352.4:p.Phe498Tyr | |
| ENST00000537580.5:c.1493T>A | ENSP00000439922.2:p.Phe498Tyr | |
| ENST00000538878.5:c.1358T>A | ENSP00000445274.2:p.Phe453Tyr | |
| ENST00000540140.5:c.1484T>A | ENSP00000441943.2:p.Phe495Tyr | |
| ENST00000545955.5:c.1649T>A | ENSP00000442047.2:p.Phe550Tyr | |
| ENST00000612274.4:c.1493T>A | ENSP00000485013.1:p.Phe498Tyr | |
| ENST00000617789.4:c.1514T>A | ENSP00000483735.1:p.Phe505Tyr | |
| ENST00000618474.4:c.1109T>A | ENSP00000484698.1:p.Phe370Tyr | |
| ENST00000624098.3:c.1493T>A | ENSP00000485539.2:p.Phe498Tyr | |
| NM_001258249.1:c.1649T>A | NP_001245178.1:p.Phe550Tyr | |
| NM_001258250.1:c.1310T>A | NP_001245179.1:p.Phe437Tyr | |
| NM_001258251.1:c.1358T>A | NP_001245180.1:p.Phe453Tyr | |
| NM_001258252.1:c.1493T>A | NP_001245181.1:p.Phe498Tyr | |
| NM_001258253.1:c.1358T>A | NP_001245182.1:p.Phe453Tyr | |
| NM_001258254.1:c.1493T>A | NP_001245183.1:p.Phe498Tyr | |
| NM_001258255.1:c.1493T>A | NP_001245184.1:p.Phe498Tyr | |
| NM_001258256.1:c.1493T>A | NP_001245185.1:p.Phe498Tyr | |
| NM_001258257.1:c.1358T>A | NP_001245186.1:p.Phe453Tyr | |
| NM_001258258.1:c.1514T>A | NP_001245187.1:p.Phe505Tyr | |
| NM_001258259.1:c.1310T>A | NP_001245188.1:p.Phe437Tyr | |
| NM_001258260.1:c.1448T>A | NP_001245189.1:p.Phe483Tyr | |
| NM_001258261.1:c.1484T>A | NP_001245190.1:p.Phe495Tyr | |
| NM_001258262.1:c.1649T>A | NP_001245191.1:p.Phe550Tyr | |
| NM_001258263.1:c.1358T>A | NP_001245192.1:p.Phe453Tyr | |
| NM_001258264.1:c.1445T>A | NP_001245193.1:p.Phe482Tyr | |
| NM_001258265.1:c.1109T>A | NP_001245194.1:p.Phe370Tyr | |
| NM_001258266.1:c.1493T>A | NP_001245195.1:p.Phe498Tyr | |
| NM_001258267.1:c.1358T>A | NP_001245196.1:p.Phe453Tyr | |
| NM_001258268.1:c.1493T>A | NP_001245197.1:p.Phe498Tyr | |
| NM_001258269.1:c.1583T>A | NP_001245198.1:p.Phe528Tyr | |
| NM_001258270.1:c.1358T>A | NP_001245199.1:p.Phe453Tyr | |
| NM_007125.4:c.1358T>A | NP_009056.3:p.Phe453Tyr | |
| NM_182659.1:c.1358T>A | NP_872600.1:p.Phe453Tyr | |
| NM_182660.1:c.1358T>A | NP_872601.1:p.Phe453Tyr | |
| NR_047596.1:n.2363T>A | ||
| NR_047597.1:n.2469T>A | ||
| NR_047598.1:n.2599T>A | ||
| NR_047599.1:n.2363T>A | ||
| NR_047600.1:n.2463T>A | ||
| NR_047601.1:n.2498T>A | ||
| NR_047602.1:n.2328T>A | ||
| NR_047603.1:n.2486T>A | ||
| NR_047604.1:n.2363T>A | ||
| NR_047605.1:n.2315T>A | ||
| NR_047606.1:n.2499T>A | ||
| NR_047607.1:n.2709T>A | ||
| NR_047608.1:n.2450T>A | ||
| NR_047609.1:n.2363T>A | ||
| NR_047610.1:n.2363T>A | ||
| NR_047611.1:n.2498T>A | ||
| NR_047612.1:n.2654T>A | ||
| NR_047613.1:n.2604T>A | ||
| NR_047614.1:n.2567T>A | ||
| NR_047615.1:n.2421T>A | ||
| NR_047616.1:n.2477T>A | ||
| NR_047617.1:n.2625T>A | ||
| NR_047618.1:n.2654T>A | ||
| NR_047619.1:n.2421T>A | ||
| NR_047620.1:n.2498T>A | ||
| NR_047621.1:n.2725T>A | ||
| NR_047622.1:n.2555T>A | ||
| NR_047623.1:n.2498T>A | ||
| NR_047624.1:n.2583T>A | ||
| NR_047625.1:n.2236T>A | ||
| NR_047626.1:n.2363T>A | ||
| NR_047627.1:n.2328T>A | ||
| NR_047628.1:n.2363T>A | ||
| NR_047629.1:n.2363T>A | ||
| NR_047630.1:n.2363T>A | ||
| NR_047631.1:n.2363T>A | ||
| NR_047632.1:n.2443T>A | ||
| NR_047633.1:n.2588T>A | ||
| NR_047634.1:n.2484T>A | ||
| NR_047635.1:n.2358T>A | ||
| NR_047636.1:n.2453T>A | ||
| NR_047637.1:n.2421T>A | ||
| NR_047638.1:n.2429T>A | ||
| NR_047639.1:n.2269T>A | ||
| NR_047640.1:n.2469T>A | ||
| NR_047641.1:n.2363T>A | ||
| NR_047642.1:n.2363T>A | ||
| NR_047643.1:n.2498T>A | ||
| NR_047644.1:n.2556T>A | ||
| NR_047645.1:n.2569T>A | ||
| NR_047646.1:n.2236T>A | ||
| NR_047647.1:n.2320T>A | ||
| XM_005262518.2:c.1493T>A | XP_005262575.1:p.Phe498Tyr | |
| XM_006724875.2:c.1649T>A | XP_006724938.1:p.Phe550Tyr | |
| XM_006724876.2:c.1358T>A | XP_006724939.1:p.Phe453Tyr | |
| XM_011531441.1:c.1649T>A | XP_011529743.1:p.Phe550Tyr | |
| XM_011531442.1:c.1649T>A | XP_011529744.1:p.Phe550Tyr | |
| XM_011531443.1:c.1583T>A | XP_011529745.1:p.Phe528Tyr | |
| XM_011531444.1:c.1583T>A | XP_011529746.1:p.Phe528Tyr | |
| XM_011531445.1:c.1514T>A | XP_011529747.1:p.Phe505Tyr | |
| XM_011531446.1:c.1493T>A | XP_011529748.1:p.Phe498Tyr | |
| XM_011531447.1:c.1514T>A | XP_011529749.1:p.Phe505Tyr | |
| XM_011531448.1:c.1448T>A | XP_011529750.1:p.Phe483Tyr | |
| XM_011531449.1:c.1493T>A | XP_011529751.1:p.Phe498Tyr | |
| XM_011531450.1:c.1448T>A | XP_011529752.1:p.Phe483Tyr | |
| XM_011531451.1:c.1358T>A | XP_011529753.1:p.Phe453Tyr | |
| XM_011531452.1:c.1358T>A | XP_011529754.1:p.Phe453Tyr | |
| XM_011531453.1:c.1649T>A | XP_011529755.1:p.Phe550Tyr | |
| XM_011531454.1:c.1649T>A | XP_011529756.1:p.Phe550Tyr | |
| XM_011531455.1:c.1649T>A | XP_011529757.1:p.Phe550Tyr | |
| XM_011531456.1:c.1649T>A | XP_011529758.1:p.Phe550Tyr | |
| XM_011531457.1:c.1649T>A | XP_011529759.1:p.Phe550Tyr | |
| XM_011531458.1:c.1583T>A | XP_011529760.1:p.Phe528Tyr | |
| XM_011531459.1:c.1649T>A | XP_011529761.1:p.Phe550Tyr | |
| XM_011531460.1:c.1649T>A | XP_011529762.1:p.Phe550Tyr | |
| XM_011531461.1:c.1649T>A | XP_011529763.1:p.Phe550Tyr | |
| XM_011531462.1:c.1583T>A | XP_011529764.1:p.Phe528Tyr | |
| XM_011531463.1:c.1493T>A | XP_011529765.1:p.Phe498Tyr | |
| XM_011531464.1:c.1493T>A | XP_011529766.1:p.Phe498Tyr | |
| XM_011531465.1:c.1358T>A | XP_011529767.1:p.Phe453Tyr | |
| XM_011531466.1:c.1583T>A | XP_011529768.1:p.Phe528Tyr | |
| XM_011531467.1:c.1493T>A | XP_011529769.1:p.Phe498Tyr | |
| XR_938608.1:n.2004T>A | ||
| XM_005262518.4:c.1493T>A | XP_005262575.1:p.Phe498Tyr | |
| XM_006724875.4:c.1649T>A | XP_006724938.1:p.Phe550Tyr | |
| XM_011531441.3:c.1649T>A | XP_011529743.1:p.Phe550Tyr | |
| XM_011531442.3:c.1649T>A | XP_011529744.1:p.Phe550Tyr | |
| XM_011531443.3:c.1583T>A | XP_011529745.1:p.Phe528Tyr | |
| XM_011531445.3:c.1514T>A | XP_011529747.1:p.Phe505Tyr | |
| XM_011531446.3:c.1493T>A | XP_011529748.1:p.Phe498Tyr | |
| XM_011531447.3:c.1514T>A | XP_011529749.1:p.Phe505Tyr | |
| XM_011531448.3:c.1448T>A | XP_011529750.1:p.Phe483Tyr | |
| XM_011531449.3:c.1493T>A | XP_011529751.1:p.Phe498Tyr | |
| XM_011531450.3:c.1448T>A | XP_011529752.1:p.Phe483Tyr | |
| XM_011531451.3:c.1358T>A | XP_011529753.1:p.Phe453Tyr | |
| XM_011531452.3:c.1358T>A | XP_011529754.1:p.Phe453Tyr | |
| XM_011531453.3:c.1649T>A | XP_011529755.1:p.Phe550Tyr | |
| XM_011531454.3:c.1649T>A | XP_011529756.1:p.Phe550Tyr | |
| XM_011531455.3:c.1649T>A | XP_011529757.1:p.Phe550Tyr | |
| XM_011531458.3:c.1583T>A | XP_011529760.1:p.Phe528Tyr | |
| XM_011531459.3:c.1649T>A | XP_011529761.1:p.Phe550Tyr | |
| XM_011531460.3:c.1649T>A | XP_011529762.1:p.Phe550Tyr | |
| XM_011531461.3:c.1649T>A | XP_011529763.1:p.Phe550Tyr | |
| XM_011531462.3:c.1583T>A | XP_011529764.1:p.Phe528Tyr | |
| XM_011531463.3:c.1493T>A | XP_011529765.1:p.Phe498Tyr | |
| XM_011531464.3:c.1493T>A | XP_011529766.1:p.Phe498Tyr | |
| XM_011531465.3:c.1358T>A | XP_011529767.1:p.Phe453Tyr | |
| XM_017030066.2:c.1583T>A | XP_016885555.1:p.Phe528Tyr | |
| XM_017030067.2:c.1493T>A | XP_016885556.1:p.Phe498Tyr | |
| XM_017030068.2:c.1358T>A | XP_016885557.1:p.Phe453Tyr | |
| XM_017030070.2:c.1649T>A | XP_016885559.1:p.Phe550Tyr | |
| XM_017030071.2:c.1649T>A | XP_016885560.1:p.Phe550Tyr | |
| XM_017030072.2:c.1448T>A | XP_016885561.1:p.Phe483Tyr | |
| XM_017030073.2:c.1358T>A | XP_016885562.1:p.Phe453Tyr | |
| XM_017030074.2:c.1583T>A | XP_016885563.1:p.Phe528Tyr | |
| XM_024452493.1:c.1649T>A | XP_024308261.1:p.Phe550Tyr | |
| XM_024452494.1:c.1448T>A | XP_024308262.1:p.Phe483Tyr | |
| XR_001756008.2:n.1713T>A | ||
| XR_002958831.1:n.1869T>A | ||
| NM_001258249.2:c.1649T>A MANE Select | NP_001245178.1:p.Phe550Tyr | |
| NM_001400170.1:c.1493T>A | NP_001387099.1:p.Phe498Tyr | |
| NM_001400171.1:c.1448T>A | NP_001387100.1:p.Phe483Tyr | |
| NM_001400173.1:c.1358T>A | NP_001387102.1:p.Phe453Tyr | |
| NM_001400175.1:c.1583T>A | NP_001387104.1:p.Phe528Tyr | |
| NM_001400177.1:c.1583T>A | NP_001387106.1:p.Phe528Tyr | |
| NM_001400178.1:c.1493T>A | NP_001387107.1:p.Phe498Tyr | |
| NM_001400181.1:c.1358T>A | NP_001387110.1:p.Phe453Tyr | |
| NM_001400183.1:c.1649T>A | NP_001387112.1:p.Phe550Tyr | |
| NM_001400185.1:c.1583T>A | NP_001387114.1:p.Phe528Tyr | |
| NM_001400187.1:c.1493T>A | NP_001387116.1:p.Phe498Tyr | |
| NM_001400189.1:c.1448T>A | NP_001387118.1:p.Phe483Tyr | |
| NM_001400192.1:c.1493T>A | NP_001387121.1:p.Phe498Tyr | |
| NM_001400195.1:c.1448T>A | NP_001387124.1:p.Phe483Tyr | |
| NM_001400199.1:c.1358T>A | NP_001387128.1:p.Phe453Tyr | |
| NR_174404.1:n.1882T>A | ||
| NR_174405.1:n.1726T>A |