Canonical Allele Identifier: CA388675007

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102875610-G-C
• MyVariant Identifiers: chr13:g.103527960G>C (hg19) ; chr13:g.102875610G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875610G>C , CM000675.2:g.102875610G>C	GRCh38
NC_000013.10:g.103527960G>C , CM000675.1:g.103527960G>C	GRCh37
NC_000013.9:g.102325961G>C	NCBI36
NG_007146.1:g.34787G>C , LRG_464:g.34787G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4369G>C (ERCC5)
ENST00000682869.1:n.3917G>C (ERCC5)
ENST00000683246.1:n.4905G>C (ERCC5)
ENST00000683642.1:n.3498G>C (ERCC5)
ENST00000639132.1:c.3943G>C (BIVM-ERCC5)	ENSP00000492684.1:p.Glu1315Gln
ENST00000639435.1:c.4630G>C (BIVM-ERCC5)	ENSP00000491742.1:p.Glu1544Gln
ENST00000651002.1:c.*3029G>C (ERCC5)	ENSP00000498809.1:n.*3029G>C
ENST00000651055.1:n.3395G>C (ERCC5)
ENST00000651281.1:n.3636G>C (ERCC5)
ENST00000651387.1:n.2752G>C (ERCC5)
ENST00000651470.1:c.*440G>C (ERCC5)	ENSP00000498701.1:n.*440G>C
ENST00000652225.2:c.3268G>C (ERCC5) MANE Select	ENSP00000498881.2:p.Glu1090Gln
ENST00000652613.1:c.2764G>C (ERCC5)	ENSP00000498357.1:p.Glu922Gln
ENST00000355739.8:c.3268G>C (ERCC5)	ENSP00000347978.4:p.Glu1090Gln
ENST00000375954.1:c.967G>C (ERCC5)	ENSP00000365121.1:p.Glu323Gln
ENST00000472247.1:n.428G>C (ERCC5)
ENST00000610537.4:c.3265G>C (ERCC5)	ENSP00000478667.1:p.Glu1089Gln
NM_000123.3:c.3268G>C , LRG_464t1:c.3268G>C (ERCC5)	NP_000114.2:p.Glu1090Gln
NM_001204425.1:c.4630G>C (BIVM-ERCC5)	NP_001191354.1:p.Glu1544Gln
NM_000123.4:c.3268G>C (ERCC5) MANE Select	NP_000114.3:p.Glu1090Gln
NM_001204425.2:c.4630G>C (BIVM-ERCC5)	NP_001191354.2:p.Glu1544Gln