Canonical Allele Identifier: CA392753774
Gene: HERC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426718
ClinVar RCV Id: RCV000490069
dbSNP Id: rs1085307759

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.63652467C>T , CM000677.2:g.63652467C>T GRCh38
NC_000015.9:g.63944666C>T , CM000677.1:g.63944666C>T GRCh37
NC_000015.8:g.61731719C>T NCBI36
NG_046958.1:g.186483G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000443617.7:c.10365G>A MANE Select ENSP00000390158.2:p.Trp3455Ter
ENST00000443617.6:c.10365G>A ENSP00000390158.2:p.Trp3455Ter
NM_003922.3:c.10365G>A NP_003913.3:p.Trp3455Ter
XM_011522138.1:c.10443G>A XP_011520440.1:p.Trp3481Ter
XM_011522139.1:c.10443G>A XP_011520441.1:p.Trp3481Ter
XM_011522140.1:c.10443G>A XP_011520442.1:p.Trp3481Ter
XM_011522141.1:c.10440G>A XP_011520443.1:p.Trp3480Ter
XM_011522142.1:c.10440G>A XP_011520444.1:p.Trp3480Ter
XM_011522143.1:c.10440G>A XP_011520445.1:p.Trp3480Ter
XM_011522144.1:c.10422G>A XP_011520446.1:p.Trp3474Ter
XM_011522145.1:c.10419G>A XP_011520447.1:p.Trp3473Ter
XM_011522146.1:c.10416G>A XP_011520448.1:p.Trp3472Ter
XM_011522147.1:c.10392G>A XP_011520449.1:p.Trp3464Ter
XM_011522148.1:c.10443G>A XP_011520450.1:p.Trp3481Ter
XM_011522149.1:c.10443G>A XP_011520451.1:p.Trp3481Ter
XM_011522150.1:c.10443G>A XP_011520452.1:p.Trp3481Ter
XR_931932.1:n.10588G>A
XR_931933.1:n.10588G>A
XR_931934.1:n.10588G>A
XR_931935.1:n.10588G>A
XM_017022699.2:c.10509G>A XP_016878188.1:p.Trp3503Ter
XM_017022700.2:c.10473G>A XP_016878189.1:p.Trp3491Ter
XM_017022701.2:c.10458G>A XP_016878190.1:p.Trp3486Ter
XM_017022702.2:c.10458G>A XP_016878191.1:p.Trp3486Ter
XM_017022703.2:c.10455G>A XP_016878192.1:p.Trp3485Ter
XM_017022704.2:c.10437G>A XP_016878193.1:p.Trp3479Ter
XM_017022705.2:c.10431G>A XP_016878194.1:p.Trp3477Ter
NM_003922.4:c.10365G>A MANE Select NP_003913.3:p.Trp3455Ter