Canonical Allele Identifier: CA388566955

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102852234C>T , CM000675.2:g.102852234C>T	GRCh38
NC_000013.10:g.103504584C>T , CM000675.1:g.103504584C>T	GRCh37
NC_000013.9:g.102302585C>T	NCBI36
NG_007146.1:g.11411C>T , LRG_464:g.11411C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.205C>T (ERCC5) MANE Select	NP_000114.3:p.Arg69Ter
ENST00000652225.2:c.205C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Arg69Ter
NM_000123.3:c.205C>T , LRG_464t1:c.205C>T (ERCC5)	NP_000114.2:p.Arg69Ter
NM_001204425.1:c.1567C>T (BIVM-ERCC5)	NP_001191354.1:p.Arg523Ter
NM_001204425.2:c.1567C>T (BIVM-ERCC5)	NP_001191354.2:p.Arg523Ter
ENST00000355739.8:c.205C>T (ERCC5)	ENSP00000347978.4:p.Arg69Ter
ENST00000375958.3:n.360C>T (ERCC5)
ENST00000472151.1:c.*110C>T (ERCC5)	ENSP00000436083.1:n.*110C>T
ENST00000535557.5:c.205C>T (ERCC5)	ENSP00000442117.1:p.Arg69Ter
ENST00000602836.1:c.1481C>T (BIVM-ERCC5)
ENST00000610537.4:c.205C>T (ERCC5)	ENSP00000478667.1:p.Arg69Ter
ENST00000638434.1:c.363-1523C>T (BIVM-ERCC5)
ENST00000639118.1:c.556C>T (BIVM-ERCC5)
ENST00000639132.1:c.880C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Arg294Ter
ENST00000639435.1:c.1567C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Arg523Ter
ENST00000651002.1:c.205C>T (ERCC5)	ENSP00000498809.1:p.Arg69Ter
ENST00000651055.1:n.334C>T (ERCC5)
ENST00000651281.1:n.573C>T (ERCC5)
ENST00000651470.1:c.205C>T (ERCC5)	ENSP00000498701.1:p.Arg69Ter
ENST00000652613.1:c.-300C>T (ERCC5)	ENSP00000498357.1:n.-300C>T
ENST00000682632.1:n.446C>T (ERCC5)
ENST00000682869.1:n.439C>T (ERCC5)
ENST00000683246.1:n.567C>T (ERCC5)
ENST00000684184.1:n.436C>T (ERCC5)