Canonical Allele Identifier: CA388568324

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102854286A>G , CM000675.2:g.102854286A>G	GRCh38
NC_000013.10:g.103506636A>G , CM000675.1:g.103506636A>G	GRCh37
NC_000013.9:g.102304637A>G	NCBI36
NG_007146.1:g.13463A>G , LRG_464:g.13463A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.381-2A>G (ERCC5) MANE Select	NP_000114.3:n.381-2A>G
ENST00000652225.2:c.381-2A>G (ERCC5) MANE Select	ENSP00000498881.2:n.381-2A>G
NM_000123.3:c.381-2A>G , LRG_464t1:c.381-2A>G (ERCC5)	NP_000114.2:n.381-2A>G
NM_001204425.1:c.1743-2A>G (BIVM-ERCC5)	NP_001191354.1:n.1743-2A>G
NM_001204425.2:c.1743-2A>G (BIVM-ERCC5)	NP_001191354.2:n.1743-2A>G
ENST00000355739.8:c.381-2A>G (ERCC5)	ENSP00000347978.4:n.381-2A>G
ENST00000535557.5:c.381-2A>G (ERCC5)	ENSP00000442117.1:n.381-2A>G
ENST00000602836.1:c.1657-2A>G (BIVM-ERCC5)
ENST00000610537.4:c.381-2A>G (ERCC5)	ENSP00000478667.1:n.381-2A>G
ENST00000638434.1:c.479-2A>G (BIVM-ERCC5)
ENST00000639132.1:c.1056-2A>G (BIVM-ERCC5)	ENSP00000492684.1:n.1056-2A>G
ENST00000639435.1:c.1743-2A>G (BIVM-ERCC5)	ENSP00000491742.1:n.1743-2A>G
ENST00000651002.1:c.*140A>G (ERCC5)	ENSP00000498809.1:n.*140A>G
ENST00000651055.1:n.510-2A>G (ERCC5)
ENST00000651281.1:n.749-2A>G (ERCC5)
ENST00000651470.1:c.381-2A>G (ERCC5)	ENSP00000498701.1:n.381-2A>G
ENST00000652613.1:c.-124-2A>G (ERCC5)	ENSP00000498357.1:n.-124-2A>G
ENST00000682632.1:n.622-2A>G (ERCC5)
ENST00000682869.1:n.1028A>G (ERCC5)
ENST00000683246.1:n.1156A>G (ERCC5)
ENST00000684184.1:n.1025A>G (ERCC5)