Canonical Allele Identifier: CA7041623

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 695453
• ClinVar RCV Id: RCV000861116
• dbSNP Id: rs147571137
• ExAC: 13:103519038 G / A
• gnomAD v2: 13-103519038-G-A
• gnomAD v3: 13-102866688-G-A
• gnomAD v4: 13-102866688-G-A
• MyVariant Identifiers: chr13:g.103519038G>A (hg19) ; chr13:g.102866688G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102866688G>A , CM000675.2:g.102866688G>A	GRCh38
NC_000013.10:g.103519038G>A , CM000675.1:g.103519038G>A	GRCh37
NC_000013.9:g.102317039G>A	NCBI36
NG_007146.1:g.25865G>A , LRG_464:g.25865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.2617G>A (ERCC5)
ENST00000682869.1:n.3025G>A (ERCC5)
ENST00000683246.1:n.3153G>A (ERCC5)
ENST00000639132.1:c.3051G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Ala1017=
ENST00000639435.1:c.3738G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Ala1246=
ENST00000651002.1:c.*2137G>A (ERCC5)	ENSP00000498809.1:n.*2137G>A
ENST00000651055.1:n.2505G>A (ERCC5)
ENST00000651281.1:n.2744G>A (ERCC5)
ENST00000651387.1:n.1860G>A (ERCC5)
ENST00000651470.1:c.2376G>A (ERCC5)	ENSP00000498701.1:p.Ala792=
ENST00000652225.2:c.2376G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Ala792=
ENST00000652613.1:c.1872G>A (ERCC5)	ENSP00000498357.1:p.Ala624=
ENST00000355739.8:c.2376G>A (ERCC5)	ENSP00000347978.4:p.Ala792=
ENST00000375954.1:c.75G>A (ERCC5)	ENSP00000365121.1:p.Ala25=
ENST00000481099.1:n.496G>A (ERCC5)
ENST00000602836.1:c.3652G>A (BIVM-ERCC5)
ENST00000610537.4:c.2376G>A (ERCC5)	ENSP00000478667.1:p.Ala792=
NM_000123.3:c.2376G>A , LRG_464t1:c.2376G>A (ERCC5)	NP_000114.2:p.Ala792=
NM_001204425.1:c.3738G>A (BIVM-ERCC5)	NP_001191354.1:p.Ala1246=
NM_000123.4:c.2376G>A (ERCC5) MANE Select	NP_000114.3:p.Ala792=
NM_001204425.2:c.3738G>A (BIVM-ERCC5)	NP_001191354.2:p.Ala1246=