Canonical Allele Identifier: CA7604059

Gene: HERC1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.63637641G>A , CM000677.2:g.63637641G>A	GRCh38
NC_000015.9:g.63929840G>A , CM000677.1:g.63929840G>A	GRCh37
NC_000015.8:g.61716893G>A	NCBI36
NG_046958.1:g.201309C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003922.4:c.12096C>T MANE Select	NP_003913.3:p.Val4032=
ENST00000443617.7:c.12096C>T MANE Select	ENSP00000390158.2:p.Val4032=
NM_003922.3:c.12096C>T	NP_003913.3:p.Val4032=
ENST00000443617.6:c.12096C>T	ENSP00000390158.2:p.Val4032=
XM_011522138.1:c.12174C>T	XP_011520440.1:p.Val4058=
XM_011522139.1:c.12174C>T	XP_011520441.1:p.Val4058=
XM_011522140.1:c.12174C>T	XP_011520442.1:p.Val4058=
XM_011522141.1:c.12171C>T	XP_011520443.1:p.Val4057=
XM_011522142.1:c.12171C>T	XP_011520444.1:p.Val4057=
XM_011522143.1:c.12171C>T	XP_011520445.1:p.Val4057=
XM_011522144.1:c.12153C>T	XP_011520446.1:p.Val4051=
XM_011522145.1:c.12150C>T	XP_011520447.1:p.Val4050=
XM_011522146.1:c.12147C>T	XP_011520448.1:p.Val4049=
XM_011522147.1:c.12123C>T	XP_011520449.1:p.Val4041=
XM_011522148.1:c.12174C>T	XP_011520450.1:p.Val4058=
XM_011522149.1:c.12174C>T	XP_011520451.1:p.Val4058=
XM_017022699.2:c.12240C>T	XP_016878188.1:p.Val4080=
XM_017022700.2:c.12204C>T	XP_016878189.1:p.Val4068=
XM_017022701.2:c.12189C>T	XP_016878190.1:p.Val4063=
XM_017022702.2:c.12189C>T	XP_016878191.1:p.Val4063=
XM_017022703.2:c.12186C>T	XP_016878192.1:p.Val4062=
XM_017022704.2:c.12168C>T	XP_016878193.1:p.Val4056=
XM_017022705.2:c.12162C>T	XP_016878194.1:p.Val4054=
XR_931932.1:n.12319C>T
XR_931933.1:n.12319C>T
XR_931934.1:n.12319C>T
XR_931935.1:n.12319C>T