Canonical Allele Identifier: CA388675028

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527969C>T (hg19) ; chr13:g.102875619C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875619C>T , CM000675.2:g.102875619C>T	GRCh38
NC_000013.10:g.103527969C>T , CM000675.1:g.103527969C>T	GRCh37
NC_000013.9:g.102325970C>T	NCBI36
NG_007146.1:g.34796C>T , LRG_464:g.34796C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4378C>T (ERCC5)
ENST00000682869.1:n.3926C>T (ERCC5)
ENST00000683246.1:n.4914C>T (ERCC5)
ENST00000683642.1:n.3507C>T (ERCC5)
ENST00000639132.1:c.3952C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Leu1318Phe
ENST00000639435.1:c.4639C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1547Phe
ENST00000651002.1:c.*3038C>T (ERCC5)	ENSP00000498809.1:n.*3038C>T
ENST00000651055.1:n.3404C>T (ERCC5)
ENST00000651281.1:n.3645C>T (ERCC5)
ENST00000651387.1:n.2761C>T (ERCC5)
ENST00000651470.1:c.*449C>T (ERCC5)	ENSP00000498701.1:n.*449C>T
ENST00000652225.2:c.3277C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Leu1093Phe
ENST00000652613.1:c.2773C>T (ERCC5)	ENSP00000498357.1:p.Leu925Phe
ENST00000355739.8:c.3277C>T (ERCC5)	ENSP00000347978.4:p.Leu1093Phe
ENST00000375954.1:c.976C>T (ERCC5)	ENSP00000365121.1:p.Leu326Phe
ENST00000472247.1:n.437C>T (ERCC5)
ENST00000610537.4:c.3274C>T (ERCC5)	ENSP00000478667.1:p.Leu1092Phe
NM_000123.3:c.3277C>T , LRG_464t1:c.3277C>T (ERCC5)	NP_000114.2:p.Leu1093Phe
NM_001204425.1:c.4639C>T (BIVM-ERCC5)	NP_001191354.1:p.Leu1547Phe
NM_000123.4:c.3277C>T (ERCC5) MANE Select	NP_000114.3:p.Leu1093Phe
NM_001204425.2:c.4639C>T (BIVM-ERCC5)	NP_001191354.2:p.Leu1547Phe