Canonical Allele Identifier: CA388674855

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102875538-G-C
• MyVariant Identifiers: chr13:g.103527888G>C (hg19) ; chr13:g.102875538G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875538G>C , CM000675.2:g.102875538G>C	GRCh38
NC_000013.10:g.103527888G>C , CM000675.1:g.103527888G>C	GRCh37
NC_000013.9:g.102325889G>C	NCBI36
NG_007146.1:g.34715G>C , LRG_464:g.34715G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4297G>C (ERCC5)
ENST00000682869.1:n.3845G>C (ERCC5)
ENST00000683246.1:n.4833G>C (ERCC5)
ENST00000683642.1:n.3426G>C (ERCC5)
ENST00000639132.1:c.3871G>C (BIVM-ERCC5)	ENSP00000492684.1:p.Glu1291Gln
ENST00000639435.1:c.4558G>C (BIVM-ERCC5)	ENSP00000491742.1:p.Glu1520Gln
ENST00000651002.1:c.*2957G>C (ERCC5)	ENSP00000498809.1:n.*2957G>C
ENST00000651055.1:n.3323G>C (ERCC5)
ENST00000651281.1:n.3564G>C (ERCC5)
ENST00000651387.1:n.2680G>C (ERCC5)
ENST00000651470.1:c.*368G>C (ERCC5)	ENSP00000498701.1:n.*368G>C
ENST00000652225.2:c.3196G>C (ERCC5) MANE Select	ENSP00000498881.2:p.Glu1066Gln
ENST00000652613.1:c.2692G>C (ERCC5)	ENSP00000498357.1:p.Glu898Gln
ENST00000355739.8:c.3196G>C (ERCC5)	ENSP00000347978.4:p.Glu1066Gln
ENST00000375954.1:c.895G>C (ERCC5)	ENSP00000365121.1:p.Glu299Gln
ENST00000472247.1:n.356G>C (ERCC5)
ENST00000610537.4:c.3193G>C (ERCC5)	ENSP00000478667.1:p.Glu1065Gln
NM_000123.3:c.3196G>C , LRG_464t1:c.3196G>C (ERCC5)	NP_000114.2:p.Glu1066Gln
NM_001204425.1:c.4558G>C (BIVM-ERCC5)	NP_001191354.1:p.Glu1520Gln
NM_000123.4:c.3196G>C (ERCC5) MANE Select	NP_000114.3:p.Glu1066Gln
NM_001204425.2:c.4558G>C (BIVM-ERCC5)	NP_001191354.2:p.Glu1520Gln