Canonical Allele Identifier: CA2800408896

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845945T>G , CM000675.2:g.102845945T>G	GRCh38
NC_000013.10:g.103498295T>G , CM000675.1:g.103498295T>G	GRCh37
NC_000013.9:g.102296296T>G	NCBI36
NG_007146.1:g.5122T>G , LRG_464:g.5122T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683246.1:n.41T>G (ERCC5)
ENST00000638434.1:c.363-7812T>G (BIVM-ERCC5)
ENST00000639118.1:c.363-3173T>G (BIVM-ERCC5)
ENST00000639132.1:c.763+6142T>G (BIVM-ERCC5)	ENSP00000492684.1:n.763+6142T>G
ENST00000639435.1:c.1450+6142T>G (BIVM-ERCC5)	ENSP00000491742.1:n.1450+6142T>G
ENST00000651002.1:c.-322T>G (ERCC5)	ENSP00000498809.1:n.-322T>G
ENST00000652613.1:c.-819T>G (ERCC5)	ENSP00000498357.1:n.-819T>G
ENST00000355739.8:c.-322T>G (ERCC5)	ENSP00000347978.4:n.-322T>G
ENST00000535557.5:c.-322T>G (ERCC5)	ENSP00000442117.1:n.-322T>G
ENST00000602836.1:c.1364+6142T>G (BIVM-ERCC5)
NM_000123.3:c.-322T>G , LRG_464t1:c.-322T>G (ERCC5)	NP_000114.2:n.-322T>G
NM_001204425.1:c.1450+6142T>G (BIVM-ERCC5)	NP_001191354.1:n.1450+6142T>G
NM_001204425.2:c.1450+6142T>G (BIVM-ERCC5)	NP_001191354.2:n.1450+6142T>G