Canonical Allele Identifier: CA959656988

Gene: BIVM-ERCC5 ERCC5

Linked Data

• dbSNP Id: rs1881918238
• gnomAD v3: 13-102845579-C-T
• gnomAD v4: 13-102845579-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845579C>T , CM000675.2:g.102845579C>T	GRCh38
NC_000013.10:g.103497929C>T , CM000675.1:g.103497929C>T	GRCh37
NC_000013.9:g.102295930C>T	NCBI36
NG_007146.1:g.4756C>T , LRG_464:g.4756C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-8178C>T (BIVM-ERCC5)
ENST00000639118.1:c.363-3539C>T (BIVM-ERCC5)
ENST00000639132.1:c.763+5776C>T (BIVM-ERCC5)	ENSP00000492684.1:n.763+5776C>T
ENST00000639435.1:c.1450+5776C>T (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5776C>T
ENST00000355739.8:c.-688C>T (ERCC5)	ENSP00000347978.4:n.-688C>T
ENST00000602836.1:c.1364+5776C>T (BIVM-ERCC5)
NM_001204425.1:c.1450+5776C>T (BIVM-ERCC5)	NP_001191354.1:n.1450+5776C>T
NM_001204425.2:c.1450+5776C>T (BIVM-ERCC5)	NP_001191354.2:n.1450+5776C>T