Canonical Allele Identifier: CA388673485

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525631T>A (hg19) ; chr13:g.102873281T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873281T>A , CM000675.2:g.102873281T>A	GRCh38
NC_000013.10:g.103525631T>A , CM000675.1:g.103525631T>A	GRCh37
NC_000013.9:g.102323632T>A	NCBI36
NG_007146.1:g.32458T>A , LRG_464:g.32458T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4003T>A (ERCC5)
ENST00000682869.1:n.3551T>A (ERCC5)
ENST00000683246.1:n.4539T>A (ERCC5)
ENST00000683642.1:n.3132T>A (ERCC5)
ENST00000639132.1:c.3577T>A (BIVM-ERCC5)	ENSP00000492684.1:p.Trp1193Arg
ENST00000639435.1:c.4264T>A (BIVM-ERCC5)	ENSP00000491742.1:p.Trp1422Arg
ENST00000651002.1:c.*2663T>A (ERCC5)	ENSP00000498809.1:n.*2663T>A
ENST00000651055.1:n.3029T>A (ERCC5)
ENST00000651281.1:n.3270T>A (ERCC5)
ENST00000651387.1:n.2386T>A (ERCC5)
ENST00000651470.1:c.*74T>A (ERCC5)	ENSP00000498701.1:n.*74T>A
ENST00000652225.2:c.2902T>A (ERCC5) MANE Select	ENSP00000498881.2:p.Trp968Arg
ENST00000652613.1:c.2398T>A (ERCC5)	ENSP00000498357.1:p.Trp800Arg
ENST00000355739.8:c.2902T>A (ERCC5)	ENSP00000347978.4:p.Trp968Arg
ENST00000375954.1:c.601T>A (ERCC5)	ENSP00000365121.1:p.Trp201Arg
ENST00000610537.4:c.2899T>A (ERCC5)	ENSP00000478667.1:p.Trp967Arg
NM_000123.3:c.2902T>A , LRG_464t1:c.2902T>A (ERCC5)	NP_000114.2:p.Trp968Arg
NM_001204425.1:c.4264T>A (BIVM-ERCC5)	NP_001191354.1:p.Trp1422Arg
NM_000123.4:c.2902T>A (ERCC5) MANE Select	NP_000114.3:p.Trp968Arg
NM_001204425.2:c.4264T>A (BIVM-ERCC5)	NP_001191354.2:p.Trp1422Arg