Canonical Allele Identifier: CA13891091

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs4150378
• gnomAD v2: 13-103527141-G-A
• gnomAD v3: 13-102874791-G-A
• gnomAD v4: 13-102874791-G-A
• MyVariant Identifiers: chr13:g.103527141G>A (hg19) ; chr13:g.102874791G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102874791G>A , CM000675.2:g.102874791G>A	GRCh38
NC_000013.10:g.103527141G>A , CM000675.1:g.103527141G>A	GRCh37
NC_000013.9:g.102325142G>A	NCBI36
NG_007146.1:g.33968G>A , LRG_464:g.33968G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4066-516G>A (ERCC5)
ENST00000682869.1:n.3614-516G>A (ERCC5)
ENST00000683246.1:n.4602-516G>A (ERCC5)
ENST00000683642.1:n.3195-516G>A (ERCC5)
ENST00000639132.1:c.3640-516G>A (BIVM-ERCC5)	ENSP00000492684.1:n.3640-516G>A
ENST00000639435.1:c.4327-516G>A (BIVM-ERCC5)	ENSP00000491742.1:n.4327-516G>A
ENST00000651002.1:c.*2726-516G>A (ERCC5)	ENSP00000498809.1:n.*2726-516G>A
ENST00000651055.1:n.3092-516G>A (ERCC5)
ENST00000651281.1:n.3333-516G>A (ERCC5)
ENST00000651387.1:n.2449-516G>A (ERCC5)
ENST00000651470.1:c.*137-516G>A (ERCC5)	ENSP00000498701.1:n.*137-516G>A
ENST00000652225.2:c.2965-516G>A (ERCC5) MANE Select	ENSP00000498881.2:n.2965-516G>A
ENST00000652613.1:c.2461-516G>A (ERCC5)	ENSP00000498357.1:n.2461-516G>A
ENST00000355739.8:c.2965-516G>A (ERCC5)	ENSP00000347978.4:n.2965-516G>A
ENST00000375954.1:c.664-516G>A (ERCC5)	ENSP00000365121.1:n.664-516G>A
ENST00000472247.1:n.57G>A (ERCC5)
ENST00000610537.4:c.2962-516G>A (ERCC5)	ENSP00000478667.1:n.2962-516G>A
NM_000123.3:c.2965-516G>A , LRG_464t1:c.2965-516G>A (ERCC5)	NP_000114.2:n.2965-516G>A
NM_001204425.1:c.4327-516G>A (BIVM-ERCC5)	NP_001191354.1:n.4327-516G>A
NM_000123.4:c.2965-516G>A (ERCC5) MANE Select	NP_000114.3:n.2965-516G>A
NM_001204425.2:c.4327-516G>A (BIVM-ERCC5)	NP_001191354.2:n.4327-516G>A