Canonical Allele Identifier: CA388673532

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525652G>A (hg19) ; chr13:g.102873302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873302G>A , CM000675.2:g.102873302G>A	GRCh38
NC_000013.10:g.103525652G>A , CM000675.1:g.103525652G>A	GRCh37
NC_000013.9:g.102323653G>A	NCBI36
NG_007146.1:g.32479G>A , LRG_464:g.32479G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4024G>A (ERCC5)
ENST00000682869.1:n.3572G>A (ERCC5)
ENST00000683246.1:n.4560G>A (ERCC5)
ENST00000683642.1:n.3153G>A (ERCC5)
ENST00000639132.1:c.3598G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Glu1200Lys
ENST00000639435.1:c.4285G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Glu1429Lys
ENST00000651002.1:c.*2684G>A (ERCC5)	ENSP00000498809.1:n.*2684G>A
ENST00000651055.1:n.3050G>A (ERCC5)
ENST00000651281.1:n.3291G>A (ERCC5)
ENST00000651387.1:n.2407G>A (ERCC5)
ENST00000651470.1:c.*95G>A (ERCC5)	ENSP00000498701.1:n.*95G>A
ENST00000652225.2:c.2923G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Glu975Lys
ENST00000652613.1:c.2419G>A (ERCC5)	ENSP00000498357.1:p.Glu807Lys
ENST00000355739.8:c.2923G>A (ERCC5)	ENSP00000347978.4:p.Glu975Lys
ENST00000375954.1:c.622G>A (ERCC5)	ENSP00000365121.1:p.Glu208Lys
ENST00000610537.4:c.2920G>A (ERCC5)	ENSP00000478667.1:p.Glu974Lys
NM_000123.3:c.2923G>A , LRG_464t1:c.2923G>A (ERCC5)	NP_000114.2:p.Glu975Lys
NM_001204425.1:c.4285G>A (BIVM-ERCC5)	NP_001191354.1:p.Glu1429Lys
NM_000123.4:c.2923G>A (ERCC5) MANE Select	NP_000114.3:p.Glu975Lys
NM_001204425.2:c.4285G>A (BIVM-ERCC5)	NP_001191354.2:p.Glu1429Lys