Canonical Allele Identifier: CA255220116

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs995431885
• gnomAD v2: 13-103508454-G-C
• gnomAD v4: 13-102856104-G-C
• MyVariant Identifiers: chr13:g.103508454G>C (hg19) ; chr13:g.102856104G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856104G>C , CM000675.2:g.102856104G>C	GRCh38
NC_000013.10:g.103508454G>C , CM000675.1:g.103508454G>C	GRCh37
NC_000013.9:g.102306455G>C	NCBI36
NG_007146.1:g.15281G>C , LRG_464:g.15281G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.761G>C (ERCC5)
ENST00000682869.1:n.1169G>C (ERCC5)
ENST00000683246.1:n.1297G>C (ERCC5)
ENST00000684184.1:n.1166G>C (ERCC5)
ENST00000639132.1:c.1195G>C (BIVM-ERCC5)	ENSP00000492684.1:p.Ala399Pro
ENST00000639435.1:c.1882G>C (BIVM-ERCC5)	ENSP00000491742.1:p.Ala628Pro
ENST00000651002.1:c.*281G>C (ERCC5)	ENSP00000498809.1:n.*281G>C
ENST00000651055.1:n.649G>C (ERCC5)
ENST00000651281.1:n.888G>C (ERCC5)
ENST00000651470.1:c.520G>C (ERCC5)	ENSP00000498701.1:p.Ala174Pro
ENST00000652225.2:c.520G>C (ERCC5) MANE Select	ENSP00000498881.2:p.Ala174Pro
ENST00000652613.1:c.16G>C (ERCC5)	ENSP00000498357.1:p.Ala6Pro
ENST00000355739.8:c.520G>C (ERCC5)	ENSP00000347978.4:p.Ala174Pro
ENST00000535557.5:c.520G>C (ERCC5)	ENSP00000442117.1:p.Ala174Pro
ENST00000602836.1:c.1796G>C (BIVM-ERCC5)
ENST00000610537.4:c.520G>C (ERCC5)	ENSP00000478667.1:p.Ala174Pro
NM_000123.3:c.520G>C , LRG_464t1:c.520G>C (ERCC5)	NP_000114.2:p.Ala174Pro
NM_001204425.1:c.1882G>C (BIVM-ERCC5)	NP_001191354.1:p.Ala628Pro
NM_000123.4:c.520G>C (ERCC5) MANE Select	NP_000114.3:p.Ala174Pro
NM_001204425.2:c.1882G>C (BIVM-ERCC5)	NP_001191354.2:p.Ala628Pro