Canonical Allele Identifier: CA388566789

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103504506C>G (hg19) ; chr13:g.102852156C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102852156C>G , CM000675.2:g.102852156C>G	GRCh38
NC_000013.10:g.103504506C>G , CM000675.1:g.103504506C>G	GRCh37
NC_000013.9:g.102302507C>G	NCBI36
NG_007146.1:g.11333C>G , LRG_464:g.11333C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.368C>G (ERCC5)
ENST00000682869.1:n.361C>G (ERCC5)
ENST00000683246.1:n.489C>G (ERCC5)
ENST00000684184.1:n.358C>G (ERCC5)
ENST00000638434.1:c.363-1601C>G (BIVM-ERCC5)
ENST00000639118.1:c.478C>G (BIVM-ERCC5)
ENST00000639132.1:c.802C>G (BIVM-ERCC5)	ENSP00000492684.1:p.Arg268Gly
ENST00000639435.1:c.1489C>G (BIVM-ERCC5)	ENSP00000491742.1:p.Arg497Gly
ENST00000651002.1:c.127C>G (ERCC5)	ENSP00000498809.1:p.Arg43Gly
ENST00000651055.1:n.256C>G (ERCC5)
ENST00000651281.1:n.495C>G (ERCC5)
ENST00000651470.1:c.127C>G (ERCC5)	ENSP00000498701.1:p.Arg43Gly
ENST00000652225.2:c.127C>G (ERCC5) MANE Select	ENSP00000498881.2:p.Arg43Gly
ENST00000652613.1:c.-378C>G (ERCC5)	ENSP00000498357.1:n.-378C>G
ENST00000355739.8:c.127C>G (ERCC5)	ENSP00000347978.4:p.Arg43Gly
ENST00000375958.3:n.282C>G (ERCC5)
ENST00000472151.1:c.*32C>G (ERCC5)	ENSP00000436083.1:n.*32C>G
ENST00000535557.5:c.127C>G (ERCC5)	ENSP00000442117.1:p.Arg43Gly
ENST00000602836.1:c.1403C>G (BIVM-ERCC5)
ENST00000610537.4:c.127C>G (ERCC5)	ENSP00000478667.1:p.Arg43Gly
NM_000123.3:c.127C>G , LRG_464t1:c.127C>G (ERCC5)	NP_000114.2:p.Arg43Gly
NM_001204425.1:c.1489C>G (BIVM-ERCC5)	NP_001191354.1:p.Arg497Gly
NM_000123.4:c.127C>G (ERCC5) MANE Select	NP_000114.3:p.Arg43Gly
NM_001204425.2:c.1489C>G (BIVM-ERCC5)	NP_001191354.2:p.Arg497Gly