Canonical Allele Identifier: CA2623612641

Gene: BIVM-ERCC5 ERCC5

Linked Data

• gnomAD v4: 13-102845749-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845749T>C , CM000675.2:g.102845749T>C	GRCh38
NC_000013.10:g.103498099T>C , CM000675.1:g.103498099T>C	GRCh37
NC_000013.9:g.102296100T>C	NCBI36
NG_007146.1:g.4926T>C , LRG_464:g.4926T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000638434.1:c.363-8008T>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3369T>C (BIVM-ERCC5)
ENST00000639132.1:c.763+5946T>C (BIVM-ERCC5)	ENSP00000492684.1:n.763+5946T>C
ENST00000639435.1:c.1450+5946T>C (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5946T>C
ENST00000355739.8:c.-518T>C (ERCC5)	ENSP00000347978.4:n.-518T>C
ENST00000602836.1:c.1364+5946T>C (BIVM-ERCC5)
NM_001204425.1:c.1450+5946T>C (BIVM-ERCC5)	NP_001191354.1:n.1450+5946T>C
NM_001204425.2:c.1450+5946T>C (BIVM-ERCC5)	NP_001191354.2:n.1450+5946T>C