Canonical Allele Identifier: CA2115212593
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102866695G= , CM000675.2:g.102866695G= GRCh38
NC_000013.10:g.103519045G= , CM000675.1:g.103519045G= GRCh37
NC_000013.9:g.102317046G= NCBI36
NG_007146.1:g.25872G= , LRG_464:g.25872G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.2624G= (ERCC5)
ENST00000682869.1:n.3032G= (ERCC5)
ENST00000683246.1:n.3160G= (ERCC5)
ENST00000639132.1:c.3058G= (BIVM-ERCC5) ENSP00000492684.1:p.Ala1020=
ENST00000639435.1:c.3745G= (BIVM-ERCC5) ENSP00000491742.1:p.Ala1249=
ENST00000651002.1:c.*2144G= (ERCC5) ENSP00000498809.1:n.*2144G=
ENST00000651055.1:n.2512G= (ERCC5)
ENST00000651281.1:n.2751G= (ERCC5)
ENST00000651387.1:n.1867G= (ERCC5)
ENST00000651470.1:c.2383G= (ERCC5) ENSP00000498701.1:p.Ala795=
ENST00000652225.2:c.2383G= (ERCC5) MANE Select ENSP00000498881.2:p.Ala795=
ENST00000652613.1:c.1879G= (ERCC5) ENSP00000498357.1:p.Ala627=
ENST00000355739.8:c.2383G= (ERCC5) ENSP00000347978.4:p.Ala795=
ENST00000375954.1:c.82G= (ERCC5) ENSP00000365121.1:p.Ala28=
ENST00000481099.1:n.503G= (ERCC5)
ENST00000602836.1:c.3659G= (BIVM-ERCC5)
ENST00000610537.4:c.2383G= (ERCC5) ENSP00000478667.1:p.Ala795=
NM_000123.3:c.2383G= , LRG_464t1:c.2383G= (ERCC5) NP_000114.2:p.Ala795=
NM_001204425.1:c.3745G= (BIVM-ERCC5) NP_001191354.1:p.Ala1249=
NM_000123.4:c.2383G= (ERCC5) MANE Select NP_000114.3:p.Ala795=
NM_001204425.2:c.3745G= (BIVM-ERCC5) NP_001191354.2:p.Ala1249=