Canonical Allele Identifier: CA2115210943
Community Standard Title: NM_000123.4(ERCC5):c.1586G= (p.Cys529=)
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102862735G= , CM000675.2:g.102862735G= GRCh38
NC_000013.10:g.103515085G= , CM000675.1:g.103515085G= GRCh37
NC_000013.9:g.102313086G= NCBI36
NG_007146.1:g.21912G= , LRG_464:g.21912G=

Transcript Alleles

HGVS Amino-acid Change
NM_000123.4:c.1586G= (ERCC5) MANE Select NP_000114.3:p.Cys529=
ENST00000652225.2:c.1586G= (ERCC5) MANE Select ENSP00000498881.2:p.Cys529=
NM_000123.3:c.1586G= , LRG_464t1:c.1586G= (ERCC5) NP_000114.2:p.Cys529=
NM_001204425.1:c.2948G= (BIVM-ERCC5) NP_001191354.1:p.Cys983=
NM_001204425.2:c.2948G= (BIVM-ERCC5) NP_001191354.2:p.Cys983=
ENST00000355739.8:c.1586G= (ERCC5) ENSP00000347978.4:p.Cys529=
ENST00000602836.1:c.2862G= (BIVM-ERCC5)
ENST00000610537.4:c.1586G= (ERCC5) ENSP00000478667.1:p.Cys529=
ENST00000639132.1:c.2261G= (BIVM-ERCC5) ENSP00000492684.1:p.Cys754=
ENST00000639435.1:c.2948G= (BIVM-ERCC5) ENSP00000491742.1:p.Cys983=
ENST00000651002.1:c.*1347G= (ERCC5) ENSP00000498809.1:n.*1347G=
ENST00000651055.1:n.1715G= (ERCC5)
ENST00000651281.1:n.1954G= (ERCC5)
ENST00000651387.1:n.1070G= (ERCC5)
ENST00000651470.1:c.1586G= (ERCC5) ENSP00000498701.1:p.Cys529=
ENST00000652613.1:c.1082G= (ERCC5) ENSP00000498357.1:p.Cys361=
ENST00000682632.1:n.1827G= (ERCC5)
ENST00000682869.1:n.2235G= (ERCC5)
ENST00000683246.1:n.2363G= (ERCC5)