Canonical Allele Identifier: CA388675535

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875780C>G , CM000675.2:g.102875780C>G	GRCh38
NC_000013.10:g.103528130C>G , CM000675.1:g.103528130C>G	GRCh37
NC_000013.9:g.102326131C>G	NCBI36
NG_007146.1:g.34957C>G , LRG_464:g.34957C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.3438C>G (ERCC5) MANE Select	NP_000114.3:p.Ser1146Arg
ENST00000652225.2:c.3438C>G (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1146Arg
NM_000123.3:c.3438C>G , LRG_464t1:c.3438C>G (ERCC5)	NP_000114.2:p.Ser1146Arg
NM_001204425.1:c.4800C>G (BIVM-ERCC5)	NP_001191354.1:p.Ser1600Arg
NM_001204425.2:c.4800C>G (BIVM-ERCC5)	NP_001191354.2:p.Ser1600Arg
ENST00000355739.8:c.3438C>G (ERCC5)	ENSP00000347978.4:p.Ser1146Arg
ENST00000375954.1:c.1137C>G (ERCC5)	ENSP00000365121.1:p.Ser379Arg
ENST00000472247.1:n.598C>G (ERCC5)
ENST00000610537.4:c.3435C>G (ERCC5)	ENSP00000478667.1:p.Ser1145Arg
ENST00000639132.1:c.4113C>G (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1371Arg
ENST00000639435.1:c.4800C>G (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1600Arg
ENST00000651002.1:c.*3199C>G (ERCC5)	ENSP00000498809.1:n.*3199C>G
ENST00000651055.1:n.3565C>G (ERCC5)
ENST00000651281.1:n.3806C>G (ERCC5)
ENST00000651387.1:n.2922C>G (ERCC5)
ENST00000651470.1:c.*610C>G (ERCC5)	ENSP00000498701.1:n.*610C>G
ENST00000652613.1:c.2934C>G (ERCC5)	ENSP00000498357.1:p.Ser978Arg
ENST00000682632.1:n.4539C>G (ERCC5)
ENST00000682869.1:n.4087C>G (ERCC5)
ENST00000683246.1:n.5075C>G (ERCC5)
ENST00000683642.1:n.3668C>G (ERCC5)