Canonical Allele Identifier: CA2115215349
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102873318T= , CM000675.2:g.102873318T= GRCh38
NC_000013.10:g.103525668T= , CM000675.1:g.103525668T= GRCh37
NC_000013.9:g.102323669T= NCBI36
NG_007146.1:g.32495T= , LRG_464:g.32495T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.4040T= (ERCC5)
ENST00000682869.1:n.3588T= (ERCC5)
ENST00000683246.1:n.4576T= (ERCC5)
ENST00000683642.1:n.3169T= (ERCC5)
ENST00000639132.1:c.3614T= (BIVM-ERCC5) ENSP00000492684.1:p.Val1205=
ENST00000639435.1:c.4301T= (BIVM-ERCC5) ENSP00000491742.1:p.Val1434=
ENST00000651002.1:c.*2700T= (ERCC5) ENSP00000498809.1:n.*2700T=
ENST00000651055.1:n.3066T= (ERCC5)
ENST00000651281.1:n.3307T= (ERCC5)
ENST00000651387.1:n.2423T= (ERCC5)
ENST00000651470.1:c.*111T= (ERCC5) ENSP00000498701.1:n.*111T=
ENST00000652225.2:c.2939T= (ERCC5) MANE Select ENSP00000498881.2:p.Val980=
ENST00000652613.1:c.2435T= (ERCC5) ENSP00000498357.1:p.Val812=
ENST00000355739.8:c.2939T= (ERCC5) ENSP00000347978.4:p.Val980=
ENST00000375954.1:c.638T= (ERCC5) ENSP00000365121.1:p.Val213=
ENST00000610537.4:c.2936T= (ERCC5) ENSP00000478667.1:p.Val979=
NM_000123.3:c.2939T= , LRG_464t1:c.2939T= (ERCC5) NP_000114.2:p.Val980=
NM_001204425.1:c.4301T= (BIVM-ERCC5) NP_001191354.1:p.Val1434=
NM_000123.4:c.2939T= (ERCC5) MANE Select NP_000114.3:p.Val980=
NM_001204425.2:c.4301T= (BIVM-ERCC5) NP_001191354.2:p.Val1434=