Canonical Allele Identifier: CA388673494

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1451968130
• gnomAD v2: 13-103525634-A-G
• MyVariant Identifiers: chr13:g.103525634A>G (hg19) ; chr13:g.102873284A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873284A>G , CM000675.2:g.102873284A>G	GRCh38
NC_000013.10:g.103525634A>G , CM000675.1:g.103525634A>G	GRCh37
NC_000013.9:g.102323635A>G	NCBI36
NG_007146.1:g.32461A>G , LRG_464:g.32461A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4006A>G (ERCC5)
ENST00000682869.1:n.3554A>G (ERCC5)
ENST00000683246.1:n.4542A>G (ERCC5)
ENST00000683642.1:n.3135A>G (ERCC5)
ENST00000639132.1:c.3580A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Asn1194Asp
ENST00000639435.1:c.4267A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Asn1423Asp
ENST00000651002.1:c.*2666A>G (ERCC5)	ENSP00000498809.1:n.*2666A>G
ENST00000651055.1:n.3032A>G (ERCC5)
ENST00000651281.1:n.3273A>G (ERCC5)
ENST00000651387.1:n.2389A>G (ERCC5)
ENST00000651470.1:c.*77A>G (ERCC5)	ENSP00000498701.1:n.*77A>G
ENST00000652225.2:c.2905A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Asn969Asp
ENST00000652613.1:c.2401A>G (ERCC5)	ENSP00000498357.1:p.Asn801Asp
ENST00000355739.8:c.2905A>G (ERCC5)	ENSP00000347978.4:p.Asn969Asp
ENST00000375954.1:c.604A>G (ERCC5)	ENSP00000365121.1:p.Asn202Asp
ENST00000610537.4:c.2902A>G (ERCC5)	ENSP00000478667.1:p.Asn968Asp
NM_000123.3:c.2905A>G , LRG_464t1:c.2905A>G (ERCC5)	NP_000114.2:p.Asn969Asp
NM_001204425.1:c.4267A>G (BIVM-ERCC5)	NP_001191354.1:p.Asn1423Asp
NM_000123.4:c.2905A>G (ERCC5) MANE Select	NP_000114.3:p.Asn969Asp
NM_001204425.2:c.4267A>G (BIVM-ERCC5)	NP_001191354.2:p.Asn1423Asp