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.152151998G= , CM000668.2:g.152151998G= | GRCh38 |
| NC_000006.11:g.152473133G= , CM000668.1:g.152473133G= | GRCh37 |
| NC_000006.10:g.152514826G= | NCBI36 |
| NG_012855.1:g.490402C= | |
| NG_012855.2:g.490402C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.738C= MANE Plus Clinical | ENSP00000346701.4:p.Asn246= | |
| ENST00000367255.10:c.24273C= MANE Select | ENSP00000356224.5:p.Asn8091= | |
| ENST00000423061.6:c.24060C= | ENSP00000396024.1:p.Asn8020= | |
| ENST00000672169.1:c.8C= | ||
| ENST00000673173.1:c.187C= | ||
| ENST00000673451.1:c.45C= | ENSP00000500189.1:p.Asn15= | |
| ENST00000341594.9:c.23058C= | ENSP00000341887.6:p.Asn7686= | |
| ENST00000347037.9:n.952C= | ||
| ENST00000354674.4:c.738C= | ENSP00000346701.4:p.Asn246= | |
| ENST00000367251.7:c.3039C= | ENSP00000356220.3:p.Asn1013= | |
| ENST00000367255.9:c.24273C= | ENSP00000356224.5:p.Asn8091= | |
| ENST00000367256.9:n.7965C= | ||
| ENST00000367257.8:c.2211C= | ENSP00000356226.4:p.Asn737= | |
| ENST00000409694.6:n.7857C= | ||
| ENST00000423061.5:c.24060C= | ENSP00000396024.1:p.Asn8020= | |
| ENST00000460912.6:n.818C= | ||
| ENST00000476519.1:n.335C= | ||
| ENST00000536990.5:n.1110C= | ||
| ENST00000539504.5:c.738C= | ENSP00000441052.1:p.Asn246= | |
| NM_033071.3:c.24060C= | NP_149062.1:p.Asn8020= | |
| NM_182961.3:c.24273C= | NP_892006.3:p.Asn8091= | |
| XM_006715407.1:c.24309C= | XP_006715470.1:p.Asn8103= | |
| XM_006715408.1:c.24297C= | XP_006715471.1:p.Asn8099= | |
| XM_006715409.1:c.24288C= | XP_006715472.1:p.Asn8096= | |
| XM_006715410.1:c.24309C= | XP_006715473.1:p.Asn8103= | |
| XM_006715411.1:c.24258C= | XP_006715474.1:p.Asn8086= | |
| XM_006715412.1:c.24294C= | XP_006715475.1:p.Asn8098= | |
| XM_006715413.1:c.24309C= | XP_006715476.1:p.Asn8103= | |
| XM_006715414.1:c.24237C= | XP_006715477.1:p.Asn8079= | |
| XM_006715415.1:c.24309C= | XP_006715478.1:p.Asn8103= | |
| XM_006715416.1:c.24294C= | XP_006715479.1:p.Asn8098= | |
| XM_006715417.1:c.24168C= | XP_006715480.1:p.Asn8056= | |
| XM_006715420.1:c.24156C= | XP_006715483.1:p.Asn8052= | |
| XM_006715421.1:c.24153C= | XP_006715484.1:p.Asn8051= | |
| XM_006715422.1:c.24150C= | XP_006715485.1:p.Asn8050= | |
| XM_006715423.1:c.24309C= | XP_006715486.1:p.Asn8103= | |
| XM_006715424.1:c.24309C= | XP_006715487.1:p.Asn8103= | |
| XM_006715425.1:c.24309C= | XP_006715488.1:p.Asn8103= | |
| XM_011535641.1:c.24306C= | XP_011533943.1:p.Asn8102= | |
| XM_011535642.1:c.24294C= | XP_011533944.1:p.Asn8098= | |
| XM_011535643.1:c.24144C= | XP_011533945.1:p.Asn8048= | |
| XM_011535644.1:c.22584C= | XP_011533946.1:p.Asn7528= | |
| XM_011535645.1:c.22077C= | XP_011533947.1:p.Asn7359= | |
| XM_011535647.1:c.17544C= | XP_011533949.1:p.Asn5848= | |
| NM_001347701.1:c.879C= | NP_001334630.1:p.Asn293= | |
| NM_001347702.1:c.738C= | NP_001334631.1:p.Asn246= | |
| XM_006715408.2:c.24297C= | XP_006715471.1:p.Asn8099= | |
| XM_006715410.2:c.24309C= | XP_006715473.1:p.Asn8103= | |
| XM_006715412.2:c.24294C= | XP_006715475.1:p.Asn8098= | |
| XM_006715413.2:c.24309C= | XP_006715476.1:p.Asn8103= | |
| XM_006715415.2:c.24309C= | XP_006715478.1:p.Asn8103= | |
| XM_006715416.2:c.24294C= | XP_006715479.1:p.Asn8098= | |
| XM_006715417.2:c.24168C= | XP_006715480.1:p.Asn8056= | |
| XM_006715420.2:c.24156C= | XP_006715483.1:p.Asn8052= | |
| XM_006715421.2:c.24153C= | XP_006715484.1:p.Asn8051= | |
| XM_006715423.2:c.24309C= | XP_006715486.1:p.Asn8103= | |
| XM_006715424.2:c.24309C= | XP_006715487.1:p.Asn8103= | |
| XM_006715425.2:c.24309C= | XP_006715488.1:p.Asn8103= | |
| XM_011535641.2:c.24306C= | XP_011533943.1:p.Asn8102= | |
| XM_011535642.2:c.24294C= | XP_011533944.1:p.Asn8098= | |
| XM_011535645.2:c.22077C= | XP_011533947.1:p.Asn7359= | |
| XM_017010608.1:c.24309C= | XP_016866097.1:p.Asn8103= | |
| XM_017010609.1:c.24309C= | XP_016866098.1:p.Asn8103= | |
| XM_017010610.1:c.24288C= | XP_016866099.1:p.Asn8096= | |
| XM_017010611.2:c.24282C= | XP_016866100.1:p.Asn8094= | |
| XM_017010612.1:c.24231C= | XP_016866101.1:p.Asn8077= | |
| XM_017010613.1:c.24306C= | XP_016866102.1:p.Asn8102= | |
| XM_017010614.1:c.24153C= | XP_016866103.1:p.Asn8051= | |
| XM_017010615.1:c.24153C= | XP_016866104.1:p.Asn8051= | |
| XM_017010616.1:c.24309C= | XP_016866105.1:p.Asn8103= | |
| XM_017010617.1:c.24306C= | XP_016866106.1:p.Asn8102= | |
| XM_017010618.1:c.24294C= | XP_016866107.1:p.Asn8098= | |
| XM_017010619.1:c.22584C= | XP_016866108.1:p.Asn7528= | |
| NM_182961.4:c.24273C= MANE Select | NP_892006.3:p.Asn8091= | |
| NM_001347701.2:c.879C= | NP_001334630.1:p.Asn293= | |
| NM_001347702.2:c.738C= MANE Plus Clinical | NP_001334631.1:p.Asn246= | |
| NM_033071.5:c.24060C= | NP_149062.2:p.Asn8020= |