Canonical Allele Identifier: CA16619985
Gene: HERC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420912
ClinVar RCV Id: RCV000478797
dbSNP Id: rs1064794786

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.63718575C>T , CM000677.2:g.63718575C>T GRCh38
NC_000015.9:g.64010774C>T , CM000677.1:g.64010774C>T GRCh37
NC_000015.8:g.61797827C>T NCBI36
NG_046958.1:g.120375G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000443617.7:c.3977G>A MANE Select ENSP00000390158.2:p.Trp1326Ter
ENST00000443617.6:c.3977G>A ENSP00000390158.2:p.Trp1326Ter
ENST00000560983.1:n.311G>A
ENST00000561400.1:c.931-2102G>A ENSP00000453937.1:n.931-2102G>A
NM_003922.3:c.3977G>A NP_003913.3:p.Trp1326Ter
XM_011522138.1:c.3977G>A XP_011520440.1:p.Trp1326Ter
XM_011522139.1:c.3977G>A XP_011520441.1:p.Trp1326Ter
XM_011522140.1:c.3977G>A XP_011520442.1:p.Trp1326Ter
XM_011522141.1:c.3977G>A XP_011520443.1:p.Trp1326Ter
XM_011522142.1:c.3977G>A XP_011520444.1:p.Trp1326Ter
XM_011522143.1:c.3977G>A XP_011520445.1:p.Trp1326Ter
XM_011522144.1:c.3977G>A XP_011520446.1:p.Trp1326Ter
XM_011522145.1:c.3977G>A XP_011520447.1:p.Trp1326Ter
XM_011522146.1:c.3977G>A XP_011520448.1:p.Trp1326Ter
XM_011522147.1:c.3977G>A XP_011520449.1:p.Trp1326Ter
XM_011522148.1:c.3977G>A XP_011520450.1:p.Trp1326Ter
XM_011522149.1:c.3977G>A XP_011520451.1:p.Trp1326Ter
XM_011522150.1:c.3977G>A XP_011520452.1:p.Trp1326Ter
XM_011522151.1:c.3977G>A XP_011520453.1:p.Trp1326Ter
XM_011522152.1:c.3977G>A XP_011520454.1:p.Trp1326Ter
XR_931932.1:n.4122G>A
XR_931933.1:n.4122G>A
XR_931934.1:n.4122G>A
XR_931935.1:n.4122G>A
XM_017022699.2:c.3977G>A XP_016878188.1:p.Trp1326Ter
XM_017022700.2:c.3977G>A XP_016878189.1:p.Trp1326Ter
XM_017022701.2:c.3977G>A XP_016878190.1:p.Trp1326Ter
XM_017022702.2:c.3977G>A XP_016878191.1:p.Trp1326Ter
XM_017022703.2:c.3977G>A XP_016878192.1:p.Trp1326Ter
XM_017022704.2:c.3977G>A XP_016878193.1:p.Trp1326Ter
XM_017022705.2:c.3977G>A XP_016878194.1:p.Trp1326Ter
XM_017022706.2:c.3977G>A XP_016878195.1:p.Trp1326Ter
NM_003922.4:c.3977G>A MANE Select NP_003913.3:p.Trp1326Ter