Canonical Allele Identifier: CA415014369
Gene: UTY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.13355923T>A , CM000686.2:g.13355923T>A GRCh38
NC_000024.9:g.15467803T>A , CM000686.1:g.15467803T>A GRCh37
NC_000024.8:g.13977197T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382896.9:c.1599A>T ENSP00000372352.5:p.Gln533His
ENST00000537580.6:c.1509A>T ENSP00000439922.2:p.Gln503His
ENST00000538878.6:c.1374A>T ENSP00000445274.2:p.Gln458His
ENST00000540140.6:c.1500A>T ENSP00000441943.2:p.Gln500His
ENST00000545955.6:c.1665A>T MANE Select ENSP00000442047.2:p.Gln555His
ENST00000612274.5:c.1509A>T ENSP00000485013.1:p.Gln503His
ENST00000617789.5:c.1530A>T ENSP00000483735.1:p.Gln510His
ENST00000618474.5:c.1125A>T ENSP00000484698.1:p.Gln375His
ENST00000682112.1:c.1374A>T ENSP00000508171.1:p.Gln458His
ENST00000682216.1:c.1374A>T ENSP00000507656.1:p.Gln458His
ENST00000682913.1:c.1509A>T ENSP00000507736.1:p.Gln503His
ENST00000684226.1:c.501A>T ENSP00000507919.1:p.Gln167His
ENST00000329134.9:c.1374A>T ENSP00000330446.5:p.Gln458His
ENST00000331397.8:c.1374A>T ENSP00000328939.4:p.Gln458His
ENST00000362096.8:c.1374A>T ENSP00000355420.4:p.Gln458His
ENST00000382896.8:c.1509A>T ENSP00000372352.4:p.Gln503His
ENST00000537580.5:c.1509A>T ENSP00000439922.2:p.Gln503His
ENST00000538878.5:c.1374A>T ENSP00000445274.2:p.Gln458His
ENST00000540140.5:c.1500A>T ENSP00000441943.2:p.Gln500His
ENST00000545955.5:c.1665A>T ENSP00000442047.2:p.Gln555His
ENST00000612274.4:c.1509A>T ENSP00000485013.1:p.Gln503His
ENST00000617789.4:c.1530A>T ENSP00000483735.1:p.Gln510His
ENST00000618474.4:c.1125A>T ENSP00000484698.1:p.Gln375His
ENST00000624098.3:c.1509A>T ENSP00000485539.2:p.Gln503His
NM_001258249.1:c.1665A>T NP_001245178.1:p.Gln555His
NM_001258250.1:c.1326A>T NP_001245179.1:p.Gln442His
NM_001258251.1:c.1374A>T NP_001245180.1:p.Gln458His
NM_001258252.1:c.1509A>T NP_001245181.1:p.Gln503His
NM_001258253.1:c.1374A>T NP_001245182.1:p.Gln458His
NM_001258254.1:c.1509A>T NP_001245183.1:p.Gln503His
NM_001258255.1:c.1509A>T NP_001245184.1:p.Gln503His
NM_001258256.1:c.1509A>T NP_001245185.1:p.Gln503His
NM_001258257.1:c.1374A>T NP_001245186.1:p.Gln458His
NM_001258258.1:c.1530A>T NP_001245187.1:p.Gln510His
NM_001258259.1:c.1326A>T NP_001245188.1:p.Gln442His
NM_001258260.1:c.1464A>T NP_001245189.1:p.Gln488His
NM_001258261.1:c.1500A>T NP_001245190.1:p.Gln500His
NM_001258262.1:c.1665A>T NP_001245191.1:p.Gln555His
NM_001258263.1:c.1374A>T NP_001245192.1:p.Gln458His
NM_001258264.1:c.1461A>T NP_001245193.1:p.Gln487His
NM_001258265.1:c.1125A>T NP_001245194.1:p.Gln375His
NM_001258266.1:c.1509A>T NP_001245195.1:p.Gln503His
NM_001258267.1:c.1374A>T NP_001245196.1:p.Gln458His
NM_001258268.1:c.1509A>T NP_001245197.1:p.Gln503His
NM_001258269.1:c.1599A>T NP_001245198.1:p.Gln533His
NM_001258270.1:c.1374A>T NP_001245199.1:p.Gln458His
NM_007125.4:c.1374A>T NP_009056.3:p.Gln458His
NM_182659.1:c.1374A>T NP_872600.1:p.Gln458His
NM_182660.1:c.1374A>T NP_872601.1:p.Gln458His
NR_047596.1:n.2379A>T
NR_047597.1:n.2485A>T
NR_047598.1:n.2615A>T
NR_047599.1:n.2379A>T
NR_047600.1:n.2479A>T
NR_047601.1:n.2514A>T
NR_047602.1:n.2344A>T
NR_047603.1:n.2502A>T
NR_047604.1:n.2379A>T
NR_047605.1:n.2331A>T
NR_047606.1:n.2515A>T
NR_047607.1:n.2725A>T
NR_047608.1:n.2466A>T
NR_047609.1:n.2379A>T
NR_047610.1:n.2379A>T
NR_047611.1:n.2514A>T
NR_047612.1:n.2670A>T
NR_047613.1:n.2620A>T
NR_047614.1:n.2583A>T
NR_047615.1:n.2437A>T
NR_047616.1:n.2493A>T
NR_047617.1:n.2641A>T
NR_047618.1:n.2670A>T
NR_047619.1:n.2437A>T
NR_047620.1:n.2514A>T
NR_047621.1:n.2741A>T
NR_047622.1:n.2571A>T
NR_047623.1:n.2514A>T
NR_047624.1:n.2599A>T
NR_047625.1:n.2252A>T
NR_047626.1:n.2379A>T
NR_047627.1:n.2344A>T
NR_047628.1:n.2379A>T
NR_047629.1:n.2379A>T
NR_047630.1:n.2379A>T
NR_047631.1:n.2379A>T
NR_047632.1:n.2459A>T
NR_047633.1:n.2604A>T
NR_047634.1:n.2500A>T
NR_047635.1:n.2374A>T
NR_047636.1:n.2469A>T
NR_047637.1:n.2437A>T
NR_047638.1:n.2445A>T
NR_047639.1:n.2285A>T
NR_047640.1:n.2485A>T
NR_047641.1:n.2379A>T
NR_047642.1:n.2379A>T
NR_047643.1:n.2514A>T
NR_047644.1:n.2572A>T
NR_047645.1:n.2585A>T
NR_047646.1:n.2252A>T
NR_047647.1:n.2336A>T
XM_005262518.2:c.1509A>T XP_005262575.1:p.Gln503His
XM_006724875.2:c.1665A>T XP_006724938.1:p.Gln555His
XM_006724876.2:c.1374A>T XP_006724939.1:p.Gln458His
XM_011531441.1:c.1665A>T XP_011529743.1:p.Gln555His
XM_011531442.1:c.1665A>T XP_011529744.1:p.Gln555His
XM_011531443.1:c.1599A>T XP_011529745.1:p.Gln533His
XM_011531444.1:c.1599A>T XP_011529746.1:p.Gln533His
XM_011531445.1:c.1530A>T XP_011529747.1:p.Gln510His
XM_011531446.1:c.1509A>T XP_011529748.1:p.Gln503His
XM_011531447.1:c.1530A>T XP_011529749.1:p.Gln510His
XM_011531448.1:c.1464A>T XP_011529750.1:p.Gln488His
XM_011531449.1:c.1509A>T XP_011529751.1:p.Gln503His
XM_011531450.1:c.1464A>T XP_011529752.1:p.Gln488His
XM_011531451.1:c.1374A>T XP_011529753.1:p.Gln458His
XM_011531452.1:c.1374A>T XP_011529754.1:p.Gln458His
XM_011531453.1:c.1665A>T XP_011529755.1:p.Gln555His
XM_011531454.1:c.1665A>T XP_011529756.1:p.Gln555His
XM_011531455.1:c.1665A>T XP_011529757.1:p.Gln555His
XM_011531456.1:c.1665A>T XP_011529758.1:p.Gln555His
XM_011531457.1:c.1665A>T XP_011529759.1:p.Gln555His
XM_011531458.1:c.1599A>T XP_011529760.1:p.Gln533His
XM_011531459.1:c.1665A>T XP_011529761.1:p.Gln555His
XM_011531460.1:c.1665A>T XP_011529762.1:p.Gln555His
XM_011531461.1:c.1665A>T XP_011529763.1:p.Gln555His
XM_011531462.1:c.1599A>T XP_011529764.1:p.Gln533His
XM_011531463.1:c.1509A>T XP_011529765.1:p.Gln503His
XM_011531464.1:c.1509A>T XP_011529766.1:p.Gln503His
XM_011531465.1:c.1374A>T XP_011529767.1:p.Gln458His
XM_011531466.1:c.1599A>T XP_011529768.1:p.Gln533His
XM_011531467.1:c.1509A>T XP_011529769.1:p.Gln503His
XR_938608.1:n.2020A>T
XM_005262518.4:c.1509A>T XP_005262575.1:p.Gln503His
XM_006724875.4:c.1665A>T XP_006724938.1:p.Gln555His
XM_011531441.3:c.1665A>T XP_011529743.1:p.Gln555His
XM_011531442.3:c.1665A>T XP_011529744.1:p.Gln555His
XM_011531443.3:c.1599A>T XP_011529745.1:p.Gln533His
XM_011531445.3:c.1530A>T XP_011529747.1:p.Gln510His
XM_011531446.3:c.1509A>T XP_011529748.1:p.Gln503His
XM_011531447.3:c.1530A>T XP_011529749.1:p.Gln510His
XM_011531448.3:c.1464A>T XP_011529750.1:p.Gln488His
XM_011531449.3:c.1509A>T XP_011529751.1:p.Gln503His
XM_011531450.3:c.1464A>T XP_011529752.1:p.Gln488His
XM_011531451.3:c.1374A>T XP_011529753.1:p.Gln458His
XM_011531452.3:c.1374A>T XP_011529754.1:p.Gln458His
XM_011531453.3:c.1665A>T XP_011529755.1:p.Gln555His
XM_011531454.3:c.1665A>T XP_011529756.1:p.Gln555His
XM_011531455.3:c.1665A>T XP_011529757.1:p.Gln555His
XM_011531458.3:c.1599A>T XP_011529760.1:p.Gln533His
XM_011531459.3:c.1665A>T XP_011529761.1:p.Gln555His
XM_011531460.3:c.1665A>T XP_011529762.1:p.Gln555His
XM_011531461.3:c.1665A>T XP_011529763.1:p.Gln555His
XM_011531462.3:c.1599A>T XP_011529764.1:p.Gln533His
XM_011531463.3:c.1509A>T XP_011529765.1:p.Gln503His
XM_011531464.3:c.1509A>T XP_011529766.1:p.Gln503His
XM_011531465.3:c.1374A>T XP_011529767.1:p.Gln458His
XM_017030066.2:c.1599A>T XP_016885555.1:p.Gln533His
XM_017030067.2:c.1509A>T XP_016885556.1:p.Gln503His
XM_017030068.2:c.1374A>T XP_016885557.1:p.Gln458His
XM_017030070.2:c.1665A>T XP_016885559.1:p.Gln555His
XM_017030071.2:c.1665A>T XP_016885560.1:p.Gln555His
XM_017030072.2:c.1464A>T XP_016885561.1:p.Gln488His
XM_017030073.2:c.1374A>T XP_016885562.1:p.Gln458His
XM_017030074.2:c.1599A>T XP_016885563.1:p.Gln533His
XM_024452493.1:c.1665A>T XP_024308261.1:p.Gln555His
XM_024452494.1:c.1464A>T XP_024308262.1:p.Gln488His
XR_001756008.2:n.1729A>T
XR_002958831.1:n.1885A>T
NM_001258249.2:c.1665A>T MANE Select NP_001245178.1:p.Gln555His
NM_001400170.1:c.1509A>T NP_001387099.1:p.Gln503His
NM_001400171.1:c.1464A>T NP_001387100.1:p.Gln488His
NM_001400173.1:c.1374A>T NP_001387102.1:p.Gln458His
NM_001400175.1:c.1599A>T NP_001387104.1:p.Gln533His
NM_001400177.1:c.1599A>T NP_001387106.1:p.Gln533His
NM_001400178.1:c.1509A>T NP_001387107.1:p.Gln503His
NM_001400181.1:c.1374A>T NP_001387110.1:p.Gln458His
NM_001400183.1:c.1665A>T NP_001387112.1:p.Gln555His
NM_001400185.1:c.1599A>T NP_001387114.1:p.Gln533His
NM_001400187.1:c.1509A>T NP_001387116.1:p.Gln503His
NM_001400189.1:c.1464A>T NP_001387118.1:p.Gln488His
NM_001400192.1:c.1509A>T NP_001387121.1:p.Gln503His
NM_001400195.1:c.1464A>T NP_001387124.1:p.Gln488His
NM_001400199.1:c.1374A>T NP_001387128.1:p.Gln458His
NR_174404.1:n.1898A>T
NR_174405.1:n.1742A>T