Canonical Allele Identifier: CA204055

Gene: HERC1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.63656210G>A , CM000677.2:g.63656210G>A	GRCh38
NC_000015.9:g.63948409G>A , CM000677.1:g.63948409G>A	GRCh37
NC_000015.8:g.61735462G>A	NCBI36
NG_046958.1:g.182740C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003922.4:c.9748C>T MANE Select	NP_003913.3:p.Arg3250Ter
ENST00000443617.7:c.9748C>T MANE Select	ENSP00000390158.2:p.Arg3250Ter
NM_003922.3:c.9748C>T	NP_003913.3:p.Arg3250Ter
ENST00000443617.6:c.9748C>T	ENSP00000390158.2:p.Arg3250Ter
XM_011522138.1:c.9775C>T	XP_011520440.1:p.Arg3259Ter
XM_011522139.1:c.9775C>T	XP_011520441.1:p.Arg3259Ter
XM_011522140.1:c.9775C>T	XP_011520442.1:p.Arg3259Ter
XM_011522141.1:c.9772C>T	XP_011520443.1:p.Arg3258Ter
XM_011522142.1:c.9772C>T	XP_011520444.1:p.Arg3258Ter
XM_011522143.1:c.9772C>T	XP_011520445.1:p.Arg3258Ter
XM_011522144.1:c.9754C>T	XP_011520446.1:p.Arg3252Ter
XM_011522145.1:c.9751C>T	XP_011520447.1:p.Arg3251Ter
XM_011522146.1:c.9748C>T	XP_011520448.1:p.Arg3250Ter
XM_011522147.1:c.9775C>T	XP_011520449.1:p.Arg3259Ter
XM_011522148.1:c.9775C>T	XP_011520450.1:p.Arg3259Ter
XM_011522149.1:c.9775C>T	XP_011520451.1:p.Arg3259Ter
XM_011522150.1:c.9775C>T	XP_011520452.1:p.Arg3259Ter
XM_017022699.2:c.9841C>T	XP_016878188.1:p.Arg3281Ter
XM_017022700.2:c.9856C>T	XP_016878189.1:p.Arg3286Ter
XM_017022701.2:c.9841C>T	XP_016878190.1:p.Arg3281Ter
XM_017022702.2:c.9790C>T	XP_016878191.1:p.Arg3264Ter
XM_017022703.2:c.9838C>T	XP_016878192.1:p.Arg3280Ter
XM_017022704.2:c.9820C>T	XP_016878193.1:p.Arg3274Ter
XM_017022705.2:c.9763C>T	XP_016878194.1:p.Arg3255Ter
XR_931932.1:n.9920C>T
XR_931933.1:n.9920C>T
XR_931934.1:n.9920C>T
XR_931935.1:n.9920C>T