Canonical Allele Identifier: CA2623612292

Gene: BIVM-ERCC5 ERCC5

Linked Data

• gnomAD v4: 13-102845508-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845508A>G , CM000675.2:g.102845508A>G	GRCh38
NC_000013.10:g.103497858A>G , CM000675.1:g.103497858A>G	GRCh37
NC_000013.9:g.102295859A>G	NCBI36
NG_007146.1:g.4685A>G , LRG_464:g.4685A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-8249A>G (BIVM-ERCC5)
ENST00000639118.1:c.363-3610A>G (BIVM-ERCC5)
ENST00000639132.1:c.763+5705A>G (BIVM-ERCC5)	ENSP00000492684.1:n.763+5705A>G
ENST00000639435.1:c.1450+5705A>G (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5705A>G
ENST00000355739.8:c.-759A>G (ERCC5)	ENSP00000347978.4:n.-759A>G
ENST00000602836.1:c.1364+5705A>G (BIVM-ERCC5)
NM_001204425.1:c.1450+5705A>G (BIVM-ERCC5)	NP_001191354.1:n.1450+5705A>G
NM_001204425.2:c.1450+5705A>G (BIVM-ERCC5)	NP_001191354.2:n.1450+5705A>G