Canonical Allele Identifier: CA388675088

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527998T>G (hg19) ; chr13:g.102875648T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875648T>G , CM000675.2:g.102875648T>G	GRCh38
NC_000013.10:g.103527998T>G , CM000675.1:g.103527998T>G	GRCh37
NC_000013.9:g.102325999T>G	NCBI36
NG_007146.1:g.34825T>G , LRG_464:g.34825T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4407T>G (ERCC5)
ENST00000682869.1:n.3955T>G (ERCC5)
ENST00000683246.1:n.4943T>G (ERCC5)
ENST00000683642.1:n.3536T>G (ERCC5)
ENST00000639132.1:c.3981T>G (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1327Arg
ENST00000639435.1:c.4668T>G (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1556Arg
ENST00000651002.1:c.*3067T>G (ERCC5)	ENSP00000498809.1:n.*3067T>G
ENST00000651055.1:n.3433T>G (ERCC5)
ENST00000651281.1:n.3674T>G (ERCC5)
ENST00000651387.1:n.2790T>G (ERCC5)
ENST00000651470.1:c.*478T>G (ERCC5)	ENSP00000498701.1:n.*478T>G
ENST00000652225.2:c.3306T>G (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1102Arg
ENST00000652613.1:c.2802T>G (ERCC5)	ENSP00000498357.1:p.Ser934Arg
ENST00000355739.8:c.3306T>G (ERCC5)	ENSP00000347978.4:p.Ser1102Arg
ENST00000375954.1:c.1005T>G (ERCC5)	ENSP00000365121.1:p.Ser335Arg
ENST00000472247.1:n.466T>G (ERCC5)
ENST00000610537.4:c.3303T>G (ERCC5)	ENSP00000478667.1:p.Ser1101Arg
NM_000123.3:c.3306T>G , LRG_464t1:c.3306T>G (ERCC5)	NP_000114.2:p.Ser1102Arg
NM_001204425.1:c.4668T>G (BIVM-ERCC5)	NP_001191354.1:p.Ser1556Arg
NM_000123.4:c.3306T>G (ERCC5) MANE Select	NP_000114.3:p.Ser1102Arg
NM_001204425.2:c.4668T>G (BIVM-ERCC5)	NP_001191354.2:p.Ser1556Arg