Canonical Allele Identifier: CA388673439

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1311259808
• MyVariant Identifiers: chr13:g.103525616C>A (hg19) ; chr13:g.102873266C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873266C>A , CM000675.2:g.102873266C>A	GRCh38
NC_000013.10:g.103525616C>A , CM000675.1:g.103525616C>A	GRCh37
NC_000013.9:g.102323617C>A	NCBI36
NG_007146.1:g.32443C>A , LRG_464:g.32443C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.3988C>A (ERCC5)
ENST00000682869.1:n.3536C>A (ERCC5)
ENST00000683246.1:n.4524C>A (ERCC5)
ENST00000683642.1:n.3117C>A (ERCC5)
ENST00000639132.1:c.3562C>A (BIVM-ERCC5)	ENSP00000492684.1:p.Gln1188Lys
ENST00000639435.1:c.4249C>A (BIVM-ERCC5)	ENSP00000491742.1:p.Gln1417Lys
ENST00000651002.1:c.*2648C>A (ERCC5)	ENSP00000498809.1:n.*2648C>A
ENST00000651055.1:n.3014C>A (ERCC5)
ENST00000651281.1:n.3255C>A (ERCC5)
ENST00000651387.1:n.2371C>A (ERCC5)
ENST00000651470.1:c.*59C>A (ERCC5)	ENSP00000498701.1:n.*59C>A
ENST00000652225.2:c.2887C>A (ERCC5) MANE Select	ENSP00000498881.2:p.Gln963Lys
ENST00000652613.1:c.2383C>A (ERCC5)	ENSP00000498357.1:p.Gln795Lys
ENST00000355739.8:c.2887C>A (ERCC5)	ENSP00000347978.4:p.Gln963Lys
ENST00000375954.1:c.586C>A (ERCC5)	ENSP00000365121.1:p.Gln196Lys
ENST00000610537.4:c.2884C>A (ERCC5)	ENSP00000478667.1:p.Gln962Lys
NM_000123.3:c.2887C>A , LRG_464t1:c.2887C>A (ERCC5)	NP_000114.2:p.Gln963Lys
NM_001204425.1:c.4249C>A (BIVM-ERCC5)	NP_001191354.1:p.Gln1417Lys
NM_000123.4:c.2887C>A (ERCC5) MANE Select	NP_000114.3:p.Gln963Lys
NM_001204425.2:c.4249C>A (BIVM-ERCC5)	NP_001191354.2:p.Gln1417Lys