Canonical Allele Identifier: CA7041852

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs556797851
• ExAC: 13:103527906 A / C
• gnomAD v2: 13-103527906-A-C
• gnomAD v3: 13-102875556-A-C
• gnomAD v4: 13-102875556-A-C
• MyVariant Identifiers: chr13:g.103527906A>C (hg19) ; chr13:g.102875556A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875556A>C , CM000675.2:g.102875556A>C	GRCh38
NC_000013.10:g.103527906A>C , CM000675.1:g.103527906A>C	GRCh37
NC_000013.9:g.102325907A>C	NCBI36
NG_007146.1:g.34733A>C , LRG_464:g.34733A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4315A>C (ERCC5)
ENST00000682869.1:n.3863A>C (ERCC5)
ENST00000683246.1:n.4851A>C (ERCC5)
ENST00000683642.1:n.3444A>C (ERCC5)
ENST00000639132.1:c.3889A>C (BIVM-ERCC5)	ENSP00000492684.1:p.Arg1297=
ENST00000639435.1:c.4576A>C (BIVM-ERCC5)	ENSP00000491742.1:p.Arg1526=
ENST00000651002.1:c.*2975A>C (ERCC5)	ENSP00000498809.1:n.*2975A>C
ENST00000651055.1:n.3341A>C (ERCC5)
ENST00000651281.1:n.3582A>C (ERCC5)
ENST00000651387.1:n.2698A>C (ERCC5)
ENST00000651470.1:c.*386A>C (ERCC5)	ENSP00000498701.1:n.*386A>C
ENST00000652225.2:c.3214A>C (ERCC5) MANE Select	ENSP00000498881.2:p.Arg1072=
ENST00000652613.1:c.2710A>C (ERCC5)	ENSP00000498357.1:p.Arg904=
ENST00000355739.8:c.3214A>C (ERCC5)	ENSP00000347978.4:p.Arg1072=
ENST00000375954.1:c.913A>C (ERCC5)	ENSP00000365121.1:p.Arg305=
ENST00000472247.1:n.374A>C (ERCC5)
ENST00000610537.4:c.3211A>C (ERCC5)	ENSP00000478667.1:p.Arg1071=
NM_000123.3:c.3214A>C , LRG_464t1:c.3214A>C (ERCC5)	NP_000114.2:p.Arg1072=
NM_001204425.1:c.4576A>C (BIVM-ERCC5)	NP_001191354.1:p.Arg1526=
NM_000123.4:c.3214A>C (ERCC5) MANE Select	NP_000114.3:p.Arg1072=
NM_001204425.2:c.4576A>C (BIVM-ERCC5)	NP_001191354.2:p.Arg1526=