Canonical Allele Identifier: CA388675119

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103528011A>T (hg19) ; chr13:g.102875661A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875661A>T , CM000675.2:g.102875661A>T	GRCh38
NC_000013.10:g.103528011A>T , CM000675.1:g.103528011A>T	GRCh37
NC_000013.9:g.102326012A>T	NCBI36
NG_007146.1:g.34838A>T , LRG_464:g.34838A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4420A>T (ERCC5)
ENST00000682869.1:n.3968A>T (ERCC5)
ENST00000683246.1:n.4956A>T (ERCC5)
ENST00000683642.1:n.3549A>T (ERCC5)
ENST00000639132.1:c.3994A>T (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1332Cys
ENST00000639435.1:c.4681A>T (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1561Cys
ENST00000651002.1:c.*3080A>T (ERCC5)	ENSP00000498809.1:n.*3080A>T
ENST00000651055.1:n.3446A>T (ERCC5)
ENST00000651281.1:n.3687A>T (ERCC5)
ENST00000651387.1:n.2803A>T (ERCC5)
ENST00000651470.1:c.*491A>T (ERCC5)	ENSP00000498701.1:n.*491A>T
ENST00000652225.2:c.3319A>T (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1107Cys
ENST00000652613.1:c.2815A>T (ERCC5)	ENSP00000498357.1:p.Ser939Cys
ENST00000355739.8:c.3319A>T (ERCC5)	ENSP00000347978.4:p.Ser1107Cys
ENST00000375954.1:c.1018A>T (ERCC5)	ENSP00000365121.1:p.Ser340Cys
ENST00000472247.1:n.479A>T (ERCC5)
ENST00000610537.4:c.3316A>T (ERCC5)	ENSP00000478667.1:p.Ser1106Cys
NM_000123.3:c.3319A>T , LRG_464t1:c.3319A>T (ERCC5)	NP_000114.2:p.Ser1107Cys
NM_001204425.1:c.4681A>T (BIVM-ERCC5)	NP_001191354.1:p.Ser1561Cys
NM_000123.4:c.3319A>T (ERCC5) MANE Select	NP_000114.3:p.Ser1107Cys
NM_001204425.2:c.4681A>T (BIVM-ERCC5)	NP_001191354.2:p.Ser1561Cys