Canonical Allele Identifier: CA2623612399

Gene: BIVM-ERCC5 ERCC5

Linked Data

• gnomAD v4: 13-102845573-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845573A>C , CM000675.2:g.102845573A>C	GRCh38
NC_000013.10:g.103497923A>C , CM000675.1:g.103497923A>C	GRCh37
NC_000013.9:g.102295924A>C	NCBI36
NG_007146.1:g.4750A>C , LRG_464:g.4750A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-8184A>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3545A>C (BIVM-ERCC5)
ENST00000639132.1:c.763+5770A>C (BIVM-ERCC5)	ENSP00000492684.1:n.763+5770A>C
ENST00000639435.1:c.1450+5770A>C (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5770A>C
ENST00000355739.8:c.-694A>C (ERCC5)	ENSP00000347978.4:n.-694A>C
ENST00000602836.1:c.1364+5770A>C (BIVM-ERCC5)
NM_001204425.1:c.1450+5770A>C (BIVM-ERCC5)	NP_001191354.1:n.1450+5770A>C
NM_001204425.2:c.1450+5770A>C (BIVM-ERCC5)	NP_001191354.2:n.1450+5770A>C