Canonical Allele Identifier: CA388574187

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103515251A>C (hg19) ; chr13:g.102862901A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862901A>C , CM000675.2:g.102862901A>C	GRCh38
NC_000013.10:g.103515251A>C , CM000675.1:g.103515251A>C	GRCh37
NC_000013.9:g.102313252A>C	NCBI36
NG_007146.1:g.22078A>C , LRG_464:g.22078A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.1993A>C (ERCC5)
ENST00000682869.1:n.2401A>C (ERCC5)
ENST00000683246.1:n.2529A>C (ERCC5)
ENST00000639132.1:c.2427A>C (BIVM-ERCC5)	ENSP00000492684.1:p.Gln809His
ENST00000639435.1:c.3114A>C (BIVM-ERCC5)	ENSP00000491742.1:p.Gln1038His
ENST00000651002.1:c.*1513A>C (ERCC5)	ENSP00000498809.1:n.*1513A>C
ENST00000651055.1:n.1881A>C (ERCC5)
ENST00000651281.1:n.2120A>C (ERCC5)
ENST00000651387.1:n.1236A>C (ERCC5)
ENST00000651470.1:c.1752A>C (ERCC5)	ENSP00000498701.1:p.Gln584His
ENST00000652225.2:c.1752A>C (ERCC5) MANE Select	ENSP00000498881.2:p.Gln584His
ENST00000652613.1:c.1248A>C (ERCC5)	ENSP00000498357.1:p.Gln416His
ENST00000355739.8:c.1752A>C (ERCC5)	ENSP00000347978.4:p.Gln584His
ENST00000602836.1:c.3028A>C (BIVM-ERCC5)
ENST00000610537.4:c.1752A>C (ERCC5)	ENSP00000478667.1:p.Gln584His
NM_000123.3:c.1752A>C , LRG_464t1:c.1752A>C (ERCC5)	NP_000114.2:p.Gln584His
NM_001204425.1:c.3114A>C (BIVM-ERCC5)	NP_001191354.1:p.Gln1038His
NM_000123.4:c.1752A>C (ERCC5) MANE Select	NP_000114.3:p.Gln584His
NM_001204425.2:c.3114A>C (BIVM-ERCC5)	NP_001191354.2:p.Gln1038His