Canonical Allele Identifier: CA7041779

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs553137914
• ExAC: 13:103525588 A / G
• gnomAD v2: 13-103525588-A-G
• gnomAD v3: 13-102873238-A-G
• gnomAD v4: 13-102873238-A-G
• MyVariant Identifiers: chr13:g.103525588A>G (hg19) ; chr13:g.102873238A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873238A>G , CM000675.2:g.102873238A>G	GRCh38
NC_000013.10:g.103525588A>G , CM000675.1:g.103525588A>G	GRCh37
NC_000013.9:g.102323589A>G	NCBI36
NG_007146.1:g.32415A>G , LRG_464:g.32415A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.3960A>G (ERCC5)
ENST00000682869.1:n.3529-21A>G (ERCC5)
ENST00000683246.1:n.4496A>G (ERCC5)
ENST00000683642.1:n.3089A>G (ERCC5)
ENST00000639132.1:c.3555-21A>G (BIVM-ERCC5)	ENSP00000492684.1:n.3555-21A>G
ENST00000639435.1:c.4242-21A>G (BIVM-ERCC5)	ENSP00000491742.1:n.4242-21A>G
ENST00000651002.1:c.*2641-21A>G (ERCC5)	ENSP00000498809.1:n.*2641-21A>G
ENST00000651055.1:n.3009-23A>G (ERCC5)
ENST00000651281.1:n.3248-21A>G (ERCC5)
ENST00000651387.1:n.2364-21A>G (ERCC5)
ENST00000651470.1:c.*52-21A>G (ERCC5)	ENSP00000498701.1:n.*52-21A>G
ENST00000652225.2:c.2880-21A>G (ERCC5) MANE Select	ENSP00000498881.2:n.2880-21A>G
ENST00000652613.1:c.2376-21A>G (ERCC5)	ENSP00000498357.1:n.2376-21A>G
ENST00000355739.8:c.2880-21A>G (ERCC5)	ENSP00000347978.4:n.2880-21A>G
ENST00000375954.1:c.579-21A>G (ERCC5)	ENSP00000365121.1:n.579-21A>G
ENST00000610537.4:c.2877-21A>G (ERCC5)	ENSP00000478667.1:n.2877-21A>G
NM_000123.3:c.2880-21A>G , LRG_464t1:c.2880-21A>G (ERCC5)	NP_000114.2:n.2880-21A>G
NM_001204425.1:c.4242-21A>G (BIVM-ERCC5)	NP_001191354.1:n.4242-21A>G
NM_000123.4:c.2880-21A>G (ERCC5) MANE Select	NP_000114.3:n.2880-21A>G
NM_001204425.2:c.4242-21A>G (BIVM-ERCC5)	NP_001191354.2:n.4242-21A>G