Canonical Allele Identifier: CA2115203136

Gene: BIVM-ERCC5 ERCC5

Linked Data

• dbSNP Id: rs1881930857
• gnomAD v4: 13-102845805-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845805C>T , CM000675.2:g.102845805C>T	GRCh38
NC_000013.10:g.103498155C>T , CM000675.1:g.103498155C>T	GRCh37
NC_000013.9:g.102296156C>T	NCBI36
NG_007146.1:g.4982C>T , LRG_464:g.4982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-7952C>T (BIVM-ERCC5)
ENST00000639118.1:c.363-3313C>T (BIVM-ERCC5)
ENST00000639132.1:c.763+6002C>T (BIVM-ERCC5)	ENSP00000492684.1:n.763+6002C>T
ENST00000639435.1:c.1450+6002C>T (BIVM-ERCC5)	ENSP00000491742.1:n.1450+6002C>T
ENST00000355739.8:c.-462C>T (ERCC5)	ENSP00000347978.4:n.-462C>T
ENST00000602836.1:c.1364+6002C>T (BIVM-ERCC5)
NM_001204425.1:c.1450+6002C>T (BIVM-ERCC5)	NP_001191354.1:n.1450+6002C>T
NM_001204425.2:c.1450+6002C>T (BIVM-ERCC5)	NP_001191354.2:n.1450+6002C>T