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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152152000T>C , CM000668.2:g.152152000T>C | GRCh38 |
| NC_000006.11:g.152473135T>C , CM000668.1:g.152473135T>C | GRCh37 |
| NC_000006.10:g.152514828T>C | NCBI36 |
| NG_012855.1:g.490400A>G | |
| NG_012855.2:g.490400A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.736A>G MANE Plus Clinical | ENSP00000346701.4:p.Asn246Asp | |
| ENST00000367255.10:c.24271A>G MANE Select | ENSP00000356224.5:p.Asn8091Asp | |
| ENST00000423061.6:c.24058A>G | ENSP00000396024.1:p.Asn8020Asp | |
| ENST00000672169.1:c.6A>G | ||
| ENST00000673173.1:c.185A>G | ||
| ENST00000673451.1:c.43A>G | ENSP00000500189.1:p.Asn15Asp | |
| ENST00000341594.9:c.23056A>G | ENSP00000341887.6:p.Asn7686Asp | |
| ENST00000347037.9:n.950A>G | ||
| ENST00000354674.4:c.736A>G | ENSP00000346701.4:p.Asn246Asp | |
| ENST00000367251.7:c.3037A>G | ENSP00000356220.3:p.Asn1013Asp | |
| ENST00000367255.9:c.24271A>G | ENSP00000356224.5:p.Asn8091Asp | |
| ENST00000367256.9:n.7963A>G | ||
| ENST00000367257.8:c.2209A>G | ENSP00000356226.4:p.Asn737Asp | |
| ENST00000409694.6:n.7855A>G | ||
| ENST00000423061.5:c.24058A>G | ENSP00000396024.1:p.Asn8020Asp | |
| ENST00000460912.6:n.816A>G | ||
| ENST00000476519.1:n.333A>G | ||
| ENST00000536990.5:n.1108A>G | ||
| ENST00000539504.5:c.736A>G | ENSP00000441052.1:p.Asn246Asp | |
| NM_033071.3:c.24058A>G | NP_149062.1:p.Asn8020Asp | |
| NM_182961.3:c.24271A>G | NP_892006.3:p.Asn8091Asp | |
| XM_006715407.1:c.24307A>G | XP_006715470.1:p.Asn8103Asp | |
| XM_006715408.1:c.24295A>G | XP_006715471.1:p.Asn8099Asp | |
| XM_006715409.1:c.24286A>G | XP_006715472.1:p.Asn8096Asp | |
| XM_006715410.1:c.24307A>G | XP_006715473.1:p.Asn8103Asp | |
| XM_006715411.1:c.24256A>G | XP_006715474.1:p.Asn8086Asp | |
| XM_006715412.1:c.24292A>G | XP_006715475.1:p.Asn8098Asp | |
| XM_006715413.1:c.24307A>G | XP_006715476.1:p.Asn8103Asp | |
| XM_006715414.1:c.24235A>G | XP_006715477.1:p.Asn8079Asp | |
| XM_006715415.1:c.24307A>G | XP_006715478.1:p.Asn8103Asp | |
| XM_006715416.1:c.24292A>G | XP_006715479.1:p.Asn8098Asp | |
| XM_006715417.1:c.24166A>G | XP_006715480.1:p.Asn8056Asp | |
| XM_006715420.1:c.24154A>G | XP_006715483.1:p.Asn8052Asp | |
| XM_006715421.1:c.24151A>G | XP_006715484.1:p.Asn8051Asp | |
| XM_006715422.1:c.24148A>G | XP_006715485.1:p.Asn8050Asp | |
| XM_006715423.1:c.24307A>G | XP_006715486.1:p.Asn8103Asp | |
| XM_006715424.1:c.24307A>G | XP_006715487.1:p.Asn8103Asp | |
| XM_006715425.1:c.24307A>G | XP_006715488.1:p.Asn8103Asp | |
| XM_011535641.1:c.24304A>G | XP_011533943.1:p.Asn8102Asp | |
| XM_011535642.1:c.24292A>G | XP_011533944.1:p.Asn8098Asp | |
| XM_011535643.1:c.24142A>G | XP_011533945.1:p.Asn8048Asp | |
| XM_011535644.1:c.22582A>G | XP_011533946.1:p.Asn7528Asp | |
| XM_011535645.1:c.22075A>G | XP_011533947.1:p.Asn7359Asp | |
| XM_011535647.1:c.17542A>G | XP_011533949.1:p.Asn5848Asp | |
| NM_001347701.1:c.877A>G | NP_001334630.1:p.Asn293Asp | |
| NM_001347702.1:c.736A>G | NP_001334631.1:p.Asn246Asp | |
| XM_006715408.2:c.24295A>G | XP_006715471.1:p.Asn8099Asp | |
| XM_006715410.2:c.24307A>G | XP_006715473.1:p.Asn8103Asp | |
| XM_006715412.2:c.24292A>G | XP_006715475.1:p.Asn8098Asp | |
| XM_006715413.2:c.24307A>G | XP_006715476.1:p.Asn8103Asp | |
| XM_006715415.2:c.24307A>G | XP_006715478.1:p.Asn8103Asp | |
| XM_006715416.2:c.24292A>G | XP_006715479.1:p.Asn8098Asp | |
| XM_006715417.2:c.24166A>G | XP_006715480.1:p.Asn8056Asp | |
| XM_006715420.2:c.24154A>G | XP_006715483.1:p.Asn8052Asp | |
| XM_006715421.2:c.24151A>G | XP_006715484.1:p.Asn8051Asp | |
| XM_006715423.2:c.24307A>G | XP_006715486.1:p.Asn8103Asp | |
| XM_006715424.2:c.24307A>G | XP_006715487.1:p.Asn8103Asp | |
| XM_006715425.2:c.24307A>G | XP_006715488.1:p.Asn8103Asp | |
| XM_011535641.2:c.24304A>G | XP_011533943.1:p.Asn8102Asp | |
| XM_011535642.2:c.24292A>G | XP_011533944.1:p.Asn8098Asp | |
| XM_011535645.2:c.22075A>G | XP_011533947.1:p.Asn7359Asp | |
| XM_017010608.1:c.24307A>G | XP_016866097.1:p.Asn8103Asp | |
| XM_017010609.1:c.24307A>G | XP_016866098.1:p.Asn8103Asp | |
| XM_017010610.1:c.24286A>G | XP_016866099.1:p.Asn8096Asp | |
| XM_017010611.2:c.24280A>G | XP_016866100.1:p.Asn8094Asp | |
| XM_017010612.1:c.24229A>G | XP_016866101.1:p.Asn8077Asp | |
| XM_017010613.1:c.24304A>G | XP_016866102.1:p.Asn8102Asp | |
| XM_017010614.1:c.24151A>G | XP_016866103.1:p.Asn8051Asp | |
| XM_017010615.1:c.24151A>G | XP_016866104.1:p.Asn8051Asp | |
| XM_017010616.1:c.24307A>G | XP_016866105.1:p.Asn8103Asp | |
| XM_017010617.1:c.24304A>G | XP_016866106.1:p.Asn8102Asp | |
| XM_017010618.1:c.24292A>G | XP_016866107.1:p.Asn8098Asp | |
| XM_017010619.1:c.22582A>G | XP_016866108.1:p.Asn7528Asp | |
| NM_182961.4:c.24271A>G MANE Select | NP_892006.3:p.Asn8091Asp | |
| NM_001347701.2:c.877A>G | NP_001334630.1:p.Asn293Asp | |
| NM_001347702.2:c.736A>G MANE Plus Clinical | NP_001334631.1:p.Asn246Asp | |
| NM_033071.5:c.24058A>G | NP_149062.2:p.Asn8020Asp |