Canonical Allele Identifier: CA388673533

Gene: ERCC5 BIVM-ERCC5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4024G>C (ERCC5)
ENST00000682869.1:n.3572G>C (ERCC5)
ENST00000683246.1:n.4560G>C (ERCC5)
ENST00000683642.1:n.3153G>C (ERCC5)
ENST00000639132.1:c.3598G>C (BIVM-ERCC5)	ENSP00000492684.1:p.Glu1200Gln
ENST00000639435.1:c.4285G>C (BIVM-ERCC5)	ENSP00000491742.1:p.Glu1429Gln
ENST00000651002.1:c.*2684G>C (ERCC5)	ENSP00000498809.1:n.*2684G>C
ENST00000651055.1:n.3050G>C (ERCC5)
ENST00000651281.1:n.3291G>C (ERCC5)
ENST00000651387.1:n.2407G>C (ERCC5)
ENST00000651470.1:c.*95G>C (ERCC5)	ENSP00000498701.1:n.*95G>C
ENST00000652225.2:c.2923G>C (ERCC5) MANE Select	ENSP00000498881.2:p.Glu975Gln
ENST00000652613.1:c.2419G>C (ERCC5)	ENSP00000498357.1:p.Glu807Gln
ENST00000355739.8:c.2923G>C (ERCC5)	ENSP00000347978.4:p.Glu975Gln
ENST00000375954.1:c.622G>C (ERCC5)	ENSP00000365121.1:p.Glu208Gln
ENST00000610537.4:c.2920G>C (ERCC5)	ENSP00000478667.1:p.Glu974Gln
NM_000123.3:c.2923G>C , LRG_464t1:c.2923G>C (ERCC5)	NP_000114.2:p.Glu975Gln
NM_001204425.1:c.4285G>C (BIVM-ERCC5)	NP_001191354.1:p.Glu1429Gln
NM_000123.4:c.2923G>C (ERCC5) MANE Select	NP_000114.3:p.Glu975Gln
NM_001204425.2:c.4285G>C (BIVM-ERCC5)	NP_001191354.2:p.Glu1429Gln