Canonical Allele Identifier: CA2623612820

Gene: BIVM-ERCC5 ERCC5

Linked Data

• gnomAD v4: 13-102845817-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845817A>C , CM000675.2:g.102845817A>C	GRCh38
NC_000013.10:g.103498167A>C , CM000675.1:g.103498167A>C	GRCh37
NC_000013.9:g.102296168A>C	NCBI36
NG_007146.1:g.4994A>C , LRG_464:g.4994A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-7940A>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3301A>C (BIVM-ERCC5)
ENST00000639132.1:c.763+6014A>C (BIVM-ERCC5)	ENSP00000492684.1:n.763+6014A>C
ENST00000639435.1:c.1450+6014A>C (BIVM-ERCC5)	ENSP00000491742.1:n.1450+6014A>C
ENST00000355739.8:c.-450A>C (ERCC5)	ENSP00000347978.4:n.-450A>C
ENST00000602836.1:c.1364+6014A>C (BIVM-ERCC5)
NM_001204425.1:c.1450+6014A>C (BIVM-ERCC5)	NP_001191354.1:n.1450+6014A>C
NM_001204425.2:c.1450+6014A>C (BIVM-ERCC5)	NP_001191354.2:n.1450+6014A>C