Canonical Allele Identifier: CA388673495

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1451968130
• gnomAD v2: 13-103525634-A-T
• gnomAD v4: 13-102873284-A-T
• MyVariant Identifiers: chr13:g.103525634A>T (hg19) ; chr13:g.102873284A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4006A>T (ERCC5)
ENST00000682869.1:n.3554A>T (ERCC5)
ENST00000683246.1:n.4542A>T (ERCC5)
ENST00000683642.1:n.3135A>T (ERCC5)
ENST00000639132.1:c.3580A>T (BIVM-ERCC5)	ENSP00000492684.1:p.Asn1194Tyr
ENST00000639435.1:c.4267A>T (BIVM-ERCC5)	ENSP00000491742.1:p.Asn1423Tyr
ENST00000651002.1:c.*2666A>T (ERCC5)	ENSP00000498809.1:n.*2666A>T
ENST00000651055.1:n.3032A>T (ERCC5)
ENST00000651281.1:n.3273A>T (ERCC5)
ENST00000651387.1:n.2389A>T (ERCC5)
ENST00000651470.1:c.*77A>T (ERCC5)	ENSP00000498701.1:n.*77A>T
ENST00000652225.2:c.2905A>T (ERCC5) MANE Select	ENSP00000498881.2:p.Asn969Tyr
ENST00000652613.1:c.2401A>T (ERCC5)	ENSP00000498357.1:p.Asn801Tyr
ENST00000355739.8:c.2905A>T (ERCC5)	ENSP00000347978.4:p.Asn969Tyr
ENST00000375954.1:c.604A>T (ERCC5)	ENSP00000365121.1:p.Asn202Tyr
ENST00000610537.4:c.2902A>T (ERCC5)	ENSP00000478667.1:p.Asn968Tyr
NM_000123.3:c.2905A>T , LRG_464t1:c.2905A>T (ERCC5)	NP_000114.2:p.Asn969Tyr
NM_001204425.1:c.4267A>T (BIVM-ERCC5)	NP_001191354.1:p.Asn1423Tyr
NM_000123.4:c.2905A>T (ERCC5) MANE Select	NP_000114.3:p.Asn969Tyr
NM_001204425.2:c.4267A>T (BIVM-ERCC5)	NP_001191354.2:p.Asn1423Tyr