Canonical Allele Identifier: CA484777024

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103515284G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862934G>A , CM000675.2:g.102862934G>A	GRCh38
NC_000013.10:g.103515284G>A , CM000675.1:g.103515284G>A	GRCh37
NC_000013.9:g.102313285G>A	NCBI36
NG_007146.1:g.22111G>A , LRG_464:g.22111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.2026G>A (ERCC5)
ENST00000682869.1:n.2434G>A (ERCC5)
ENST00000683246.1:n.2562G>A (ERCC5)
ENST00000639132.1:c.2460G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Glu820=
ENST00000639435.1:c.3147G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Glu1049=
ENST00000651002.1:c.*1546G>A (ERCC5)	ENSP00000498809.1:n.*1546G>A
ENST00000651055.1:n.1914G>A (ERCC5)
ENST00000651281.1:n.2153G>A (ERCC5)
ENST00000651387.1:n.1269G>A (ERCC5)
ENST00000651470.1:c.1785G>A (ERCC5)	ENSP00000498701.1:p.Glu595=
ENST00000652225.2:c.1785G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Glu595=
ENST00000652613.1:c.1281G>A (ERCC5)	ENSP00000498357.1:p.Glu427=
ENST00000355739.8:c.1785G>A (ERCC5)	ENSP00000347978.4:p.Glu595=
ENST00000602836.1:c.3061G>A (BIVM-ERCC5)
ENST00000610537.4:c.1785G>A (ERCC5)	ENSP00000478667.1:p.Glu595=
NM_000123.3:c.1785G>A , LRG_464t1:c.1785G>A (ERCC5)	NP_000114.2:p.Glu595=
NM_001204425.1:c.3147G>A (BIVM-ERCC5)	NP_001191354.1:p.Glu1049=
NM_000123.4:c.1785G>A (ERCC5) MANE Select	NP_000114.3:p.Glu595=
NM_001204425.2:c.3147G>A (BIVM-ERCC5)	NP_001191354.2:p.Glu1049=