Canonical Allele Identifier: CA388565192

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103498699C>G (hg19) ; chr13:g.102846349C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846349C>G , CM000675.2:g.102846349C>G	GRCh38
NC_000013.10:g.103498699C>G , CM000675.1:g.103498699C>G	GRCh37
NC_000013.9:g.102296700C>G	NCBI36
NG_007146.1:g.5526C>G , LRG_464:g.5526C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.324C>G (ERCC5)
ENST00000682869.1:n.317C>G (ERCC5)
ENST00000683246.1:n.445C>G (ERCC5)
ENST00000684184.1:n.314C>G (ERCC5)
ENST00000638434.1:c.363-7408C>G (BIVM-ERCC5)
ENST00000639118.1:c.363-2769C>G (BIVM-ERCC5)
ENST00000639132.1:c.764-5769C>G (BIVM-ERCC5)	ENSP00000492684.1:n.764-5769C>G
ENST00000639435.1:c.1451-5769C>G (BIVM-ERCC5)	ENSP00000491742.1:n.1451-5769C>G
ENST00000651002.1:c.83C>G (ERCC5)	ENSP00000498809.1:p.Ala28Gly
ENST00000651470.1:c.83C>G (ERCC5)	ENSP00000498701.1:p.Ala28Gly
ENST00000652225.2:c.83C>G (ERCC5) MANE Select	ENSP00000498881.2:p.Ala28Gly
ENST00000652613.1:c.-415C>G (ERCC5)	ENSP00000498357.1:n.-415C>G
ENST00000355739.8:c.83C>G (ERCC5)	ENSP00000347978.4:p.Ala28Gly
ENST00000375958.3:n.238C>G (ERCC5)
ENST00000472151.1:c.48+35C>G (ERCC5)	ENSP00000436083.1:n.48+35C>G
ENST00000535557.5:c.83C>G (ERCC5)	ENSP00000442117.1:p.Ala28Gly
ENST00000602836.1:c.1365-5769C>G (BIVM-ERCC5)
ENST00000610537.4:c.83C>G (ERCC5)	ENSP00000478667.1:p.Ala28Gly
NM_000123.3:c.83C>G , LRG_464t1:c.83C>G (ERCC5)	NP_000114.2:p.Ala28Gly
NM_001204425.1:c.1451-5769C>G (BIVM-ERCC5)	NP_001191354.1:n.1451-5769C>G
NM_000123.4:c.83C>G (ERCC5) MANE Select	NP_000114.3:p.Ala28Gly
NM_001204425.2:c.1451-5769C>G (BIVM-ERCC5)	NP_001191354.2:n.1451-5769C>G