Canonical Allele Identifier: CA484983749

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs2140543659
• MyVariant Identifiers: chr13:g.103527992T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875642T>G , CM000675.2:g.102875642T>G	GRCh38
NC_000013.10:g.103527992T>G , CM000675.1:g.103527992T>G	GRCh37
NC_000013.9:g.102325993T>G	NCBI36
NG_007146.1:g.34819T>G , LRG_464:g.34819T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4401T>G (ERCC5)
ENST00000682869.1:n.3949T>G (ERCC5)
ENST00000683246.1:n.4937T>G (ERCC5)
ENST00000683642.1:n.3530T>G (ERCC5)
ENST00000639132.1:c.3975T>G (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1325=
ENST00000639435.1:c.4662T>G (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1554=
ENST00000651002.1:c.*3061T>G (ERCC5)	ENSP00000498809.1:n.*3061T>G
ENST00000651055.1:n.3427T>G (ERCC5)
ENST00000651281.1:n.3668T>G (ERCC5)
ENST00000651387.1:n.2784T>G (ERCC5)
ENST00000651470.1:c.*472T>G (ERCC5)	ENSP00000498701.1:n.*472T>G
ENST00000652225.2:c.3300T>G (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1100=
ENST00000652613.1:c.2796T>G (ERCC5)	ENSP00000498357.1:p.Ser932=
ENST00000355739.8:c.3300T>G (ERCC5)	ENSP00000347978.4:p.Ser1100=
ENST00000375954.1:c.999T>G (ERCC5)	ENSP00000365121.1:p.Ser333=
ENST00000472247.1:n.460T>G (ERCC5)
ENST00000610537.4:c.3297T>G (ERCC5)	ENSP00000478667.1:p.Ser1099=
NM_000123.3:c.3300T>G , LRG_464t1:c.3300T>G (ERCC5)	NP_000114.2:p.Ser1100=
NM_001204425.1:c.4662T>G (BIVM-ERCC5)	NP_001191354.1:p.Ser1554=
NM_000123.4:c.3300T>G (ERCC5) MANE Select	NP_000114.3:p.Ser1100=
NM_001204425.2:c.4662T>G (BIVM-ERCC5)	NP_001191354.2:p.Ser1554=