Canonical Allele Identifier: CA2628884827

Gene: HERC1

Linked Data

• gnomAD v4: 15-63623589-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.63623589G>A , CM000677.2:g.63623589G>A	GRCh38
NC_000015.9:g.63915788G>A , CM000677.1:g.63915788G>A	GRCh37
NC_000015.8:g.61702841G>A	NCBI36
NG_046958.1:g.215361C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000443617.7:c.13611+136C>T MANE Select	ENSP00000390158.2:n.13611+136C>T
ENST00000443617.6:c.13611+136C>T	ENSP00000390158.2:n.13611+136C>T
ENST00000558324.1:c.774+136C>T
NM_003922.3:c.13611+136C>T	NP_003913.3:n.13611+136C>T
XM_011522138.1:c.13689+136C>T	XP_011520440.1:n.13689+136C>T
XM_011522139.1:c.13689+136C>T	XP_011520441.1:n.13689+136C>T
XM_011522140.1:c.13689+136C>T	XP_011520442.1:n.13689+136C>T
XM_011522141.1:c.13686+136C>T	XP_011520443.1:n.13686+136C>T
XM_011522142.1:c.13686+136C>T	XP_011520444.1:n.13686+136C>T
XM_011522143.1:c.13686+136C>T	XP_011520445.1:n.13686+136C>T
XM_011522144.1:c.13668+136C>T	XP_011520446.1:n.13668+136C>T
XM_011522145.1:c.13665+136C>T	XP_011520447.1:n.13665+136C>T
XM_011522146.1:c.13662+136C>T	XP_011520448.1:n.13662+136C>T
XM_011522147.1:c.13638+136C>T	XP_011520449.1:n.13638+136C>T
XM_011522148.1:c.13689+136C>T	XP_011520450.1:n.13689+136C>T
XR_931932.1:n.13668+569C>T
XM_017022699.2:c.13755+136C>T	XP_016878188.1:n.13755+136C>T
XM_017022700.2:c.13719+136C>T	XP_016878189.1:n.13719+136C>T
XM_017022701.2:c.13704+136C>T	XP_016878190.1:n.13704+136C>T
XM_017022702.2:c.13704+136C>T	XP_016878191.1:n.13704+136C>T
XM_017022703.2:c.13701+136C>T	XP_016878192.1:n.13701+136C>T
XM_017022704.2:c.13683+136C>T	XP_016878193.1:n.13683+136C>T
XM_017022705.2:c.13677+136C>T	XP_016878194.1:n.13677+136C>T
NM_003922.4:c.13611+136C>T MANE Select	NP_003913.3:n.13611+136C>T