Canonical Allele Identifier: CA7041261

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102861505A>G , CM000675.2:g.102861505A>G	GRCh38
NC_000013.10:g.103513855A>G , CM000675.1:g.103513855A>G	GRCh37
NC_000013.9:g.102311856A>G	NCBI36
NG_007146.1:g.20682A>G , LRG_464:g.20682A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.673-2A>G (ERCC5) MANE Select	NP_000114.3:n.673-2A>G
ENST00000652225.2:c.673-2A>G (ERCC5) MANE Select	ENSP00000498881.2:n.673-2A>G
NM_000123.3:c.673-2A>G , LRG_464t1:c.673-2A>G (ERCC5)	NP_000114.2:n.673-2A>G
NM_001204425.1:c.2035-2A>G (BIVM-ERCC5)	NP_001191354.1:n.2035-2A>G
NM_001204425.2:c.2035-2A>G (BIVM-ERCC5)	NP_001191354.2:n.2035-2A>G
ENST00000355739.8:c.673-2A>G (ERCC5)	ENSP00000347978.4:n.673-2A>G
ENST00000602836.1:c.1949-2A>G (BIVM-ERCC5)
ENST00000610537.4:c.673-2A>G (ERCC5)	ENSP00000478667.1:n.673-2A>G
ENST00000639132.1:c.1348-2A>G (BIVM-ERCC5)	ENSP00000492684.1:n.1348-2A>G
ENST00000639435.1:c.2035-2A>G (BIVM-ERCC5)	ENSP00000491742.1:n.2035-2A>G
ENST00000651002.1:c.*434-2A>G (ERCC5)	ENSP00000498809.1:n.*434-2A>G
ENST00000651055.1:n.802-2A>G (ERCC5)
ENST00000651281.1:n.1041-2A>G (ERCC5)
ENST00000651387.1:n.157-2A>G (ERCC5)
ENST00000651470.1:c.673-2A>G (ERCC5)	ENSP00000498701.1:n.673-2A>G
ENST00000652613.1:c.169-2A>G (ERCC5)	ENSP00000498357.1:n.169-2A>G
ENST00000682632.1:n.914-2A>G (ERCC5)
ENST00000682869.1:n.1322-2A>G (ERCC5)
ENST00000683246.1:n.1450-2A>G (ERCC5)