Canonical Allele Identifier: CA484983444

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102875582-A-C
• MyVariant Identifiers: chr13:g.103527932A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875582A>C , CM000675.2:g.102875582A>C	GRCh38
NC_000013.10:g.103527932A>C , CM000675.1:g.103527932A>C	GRCh37
NC_000013.9:g.102325933A>C	NCBI36
NG_007146.1:g.34759A>C , LRG_464:g.34759A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4341A>C (ERCC5)
ENST00000682869.1:n.3889A>C (ERCC5)
ENST00000683246.1:n.4877A>C (ERCC5)
ENST00000683642.1:n.3470A>C (ERCC5)
ENST00000639132.1:c.3915A>C (BIVM-ERCC5)	ENSP00000492684.1:p.Gly1305=
ENST00000639435.1:c.4602A>C (BIVM-ERCC5)	ENSP00000491742.1:p.Gly1534=
ENST00000651002.1:c.*3001A>C (ERCC5)	ENSP00000498809.1:n.*3001A>C
ENST00000651055.1:n.3367A>C (ERCC5)
ENST00000651281.1:n.3608A>C (ERCC5)
ENST00000651387.1:n.2724A>C (ERCC5)
ENST00000651470.1:c.*412A>C (ERCC5)	ENSP00000498701.1:n.*412A>C
ENST00000652225.2:c.3240A>C (ERCC5) MANE Select	ENSP00000498881.2:p.Gly1080=
ENST00000652613.1:c.2736A>C (ERCC5)	ENSP00000498357.1:p.Gly912=
ENST00000355739.8:c.3240A>C (ERCC5)	ENSP00000347978.4:p.Gly1080=
ENST00000375954.1:c.939A>C (ERCC5)	ENSP00000365121.1:p.Gly313=
ENST00000472247.1:n.400A>C (ERCC5)
ENST00000610537.4:c.3237A>C (ERCC5)	ENSP00000478667.1:p.Gly1079=
NM_000123.3:c.3240A>C , LRG_464t1:c.3240A>C (ERCC5)	NP_000114.2:p.Arg1080=
NM_001204425.1:c.4602A>C (BIVM-ERCC5)	NP_001191354.1:p.Arg1534=
NM_000123.4:c.3240A>C (ERCC5) MANE Select	NP_000114.3:p.Gly1080=
NM_001204425.2:c.4602A>C (BIVM-ERCC5)	NP_001191354.2:p.Gly1534=