Canonical Allele Identifier: CA388675031

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527970T>G (hg19) ; chr13:g.102875620T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875620T>G , CM000675.2:g.102875620T>G	GRCh38
NC_000013.10:g.103527970T>G , CM000675.1:g.103527970T>G	GRCh37
NC_000013.9:g.102325971T>G	NCBI36
NG_007146.1:g.34797T>G , LRG_464:g.34797T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4379T>G (ERCC5)
ENST00000682869.1:n.3927T>G (ERCC5)
ENST00000683246.1:n.4915T>G (ERCC5)
ENST00000683642.1:n.3508T>G (ERCC5)
ENST00000639132.1:c.3953T>G (BIVM-ERCC5)	ENSP00000492684.1:p.Leu1318Arg
ENST00000639435.1:c.4640T>G (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1547Arg
ENST00000651002.1:c.*3039T>G (ERCC5)	ENSP00000498809.1:n.*3039T>G
ENST00000651055.1:n.3405T>G (ERCC5)
ENST00000651281.1:n.3646T>G (ERCC5)
ENST00000651387.1:n.2762T>G (ERCC5)
ENST00000651470.1:c.*450T>G (ERCC5)	ENSP00000498701.1:n.*450T>G
ENST00000652225.2:c.3278T>G (ERCC5) MANE Select	ENSP00000498881.2:p.Leu1093Arg
ENST00000652613.1:c.2774T>G (ERCC5)	ENSP00000498357.1:p.Leu925Arg
ENST00000355739.8:c.3278T>G (ERCC5)	ENSP00000347978.4:p.Leu1093Arg
ENST00000375954.1:c.977T>G (ERCC5)	ENSP00000365121.1:p.Leu326Arg
ENST00000472247.1:n.438T>G (ERCC5)
ENST00000610537.4:c.3275T>G (ERCC5)	ENSP00000478667.1:p.Leu1092Arg
NM_000123.3:c.3278T>G , LRG_464t1:c.3278T>G (ERCC5)	NP_000114.2:p.Leu1093Arg
NM_001204425.1:c.4640T>G (BIVM-ERCC5)	NP_001191354.1:p.Leu1547Arg
NM_000123.4:c.3278T>G (ERCC5) MANE Select	NP_000114.3:p.Leu1093Arg
NM_001204425.2:c.4640T>G (BIVM-ERCC5)	NP_001191354.2:p.Leu1547Arg