Canonical Allele Identifier: CA2115215350
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102873319A= , CM000675.2:g.102873319A= GRCh38
NC_000013.10:g.103525669A= , CM000675.1:g.103525669A= GRCh37
NC_000013.9:g.102323670A= NCBI36
NG_007146.1:g.32496A= , LRG_464:g.32496A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.4041A= (ERCC5)
ENST00000682869.1:n.3589A= (ERCC5)
ENST00000683246.1:n.4577A= (ERCC5)
ENST00000683642.1:n.3170A= (ERCC5)
ENST00000639132.1:c.3615A= (BIVM-ERCC5) ENSP00000492684.1:p.Val1205=
ENST00000639435.1:c.4302A= (BIVM-ERCC5) ENSP00000491742.1:p.Val1434=
ENST00000651002.1:c.*2701A= (ERCC5) ENSP00000498809.1:n.*2701A=
ENST00000651055.1:n.3067A= (ERCC5)
ENST00000651281.1:n.3308A= (ERCC5)
ENST00000651387.1:n.2424A= (ERCC5)
ENST00000651470.1:c.*112A= (ERCC5) ENSP00000498701.1:n.*112A=
ENST00000652225.2:c.2940A= (ERCC5) MANE Select ENSP00000498881.2:p.Val980=
ENST00000652613.1:c.2436A= (ERCC5) ENSP00000498357.1:p.Val812=
ENST00000355739.8:c.2940A= (ERCC5) ENSP00000347978.4:p.Val980=
ENST00000375954.1:c.639A= (ERCC5) ENSP00000365121.1:p.Val213=
ENST00000610537.4:c.2937A= (ERCC5) ENSP00000478667.1:p.Val979=
NM_000123.3:c.2940A= , LRG_464t1:c.2940A= (ERCC5) NP_000114.2:p.Val980=
NM_001204425.1:c.4302A= (BIVM-ERCC5) NP_001191354.1:p.Val1434=
NM_000123.4:c.2940A= (ERCC5) MANE Select NP_000114.3:p.Val980=
NM_001204425.2:c.4302A= (BIVM-ERCC5) NP_001191354.2:p.Val1434=