Canonical Allele Identifier: CA388675124

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103528013T>G (hg19) ; chr13:g.102875663T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875663T>G , CM000675.2:g.102875663T>G	GRCh38
NC_000013.10:g.103528013T>G , CM000675.1:g.103528013T>G	GRCh37
NC_000013.9:g.102326014T>G	NCBI36
NG_007146.1:g.34840T>G , LRG_464:g.34840T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4422T>G (ERCC5)
ENST00000682869.1:n.3970T>G (ERCC5)
ENST00000683246.1:n.4958T>G (ERCC5)
ENST00000683642.1:n.3551T>G (ERCC5)
ENST00000639132.1:c.3996T>G (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1332Arg
ENST00000639435.1:c.4683T>G (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1561Arg
ENST00000651002.1:c.*3082T>G (ERCC5)	ENSP00000498809.1:n.*3082T>G
ENST00000651055.1:n.3448T>G (ERCC5)
ENST00000651281.1:n.3689T>G (ERCC5)
ENST00000651387.1:n.2805T>G (ERCC5)
ENST00000651470.1:c.*493T>G (ERCC5)	ENSP00000498701.1:n.*493T>G
ENST00000652225.2:c.3321T>G (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1107Arg
ENST00000652613.1:c.2817T>G (ERCC5)	ENSP00000498357.1:p.Ser939Arg
ENST00000355739.8:c.3321T>G (ERCC5)	ENSP00000347978.4:p.Ser1107Arg
ENST00000375954.1:c.1020T>G (ERCC5)	ENSP00000365121.1:p.Ser340Arg
ENST00000472247.1:n.481T>G (ERCC5)
ENST00000610537.4:c.3318T>G (ERCC5)	ENSP00000478667.1:p.Ser1106Arg
NM_000123.3:c.3321T>G , LRG_464t1:c.3321T>G (ERCC5)	NP_000114.2:p.Ser1107Arg
NM_001204425.1:c.4683T>G (BIVM-ERCC5)	NP_001191354.1:p.Ser1561Arg
NM_000123.4:c.3321T>G (ERCC5) MANE Select	NP_000114.3:p.Ser1107Arg
NM_001204425.2:c.4683T>G (BIVM-ERCC5)	NP_001191354.2:p.Ser1561Arg