Canonical Allele Identifier: CA2623613373

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102845976-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845976G>T , CM000675.2:g.102845976G>T	GRCh38
NC_000013.10:g.103498326G>T , CM000675.1:g.103498326G>T	GRCh37
NC_000013.9:g.102296327G>T	NCBI36
NG_007146.1:g.5153G>T , LRG_464:g.5153G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683246.1:n.72G>T (ERCC5)
ENST00000638434.1:c.363-7781G>T (BIVM-ERCC5)
ENST00000639118.1:c.363-3142G>T (BIVM-ERCC5)
ENST00000639132.1:c.764-6142G>T (BIVM-ERCC5)	ENSP00000492684.1:n.764-6142G>T
ENST00000639435.1:c.1451-6142G>T (BIVM-ERCC5)	ENSP00000491742.1:n.1451-6142G>T
ENST00000651002.1:c.-291G>T (ERCC5)	ENSP00000498809.1:n.-291G>T
ENST00000652613.1:c.-788G>T (ERCC5)	ENSP00000498357.1:n.-788G>T
ENST00000355739.8:c.-291G>T (ERCC5)	ENSP00000347978.4:n.-291G>T
ENST00000535557.5:c.-291G>T (ERCC5)	ENSP00000442117.1:n.-291G>T
ENST00000602836.1:c.1365-6142G>T (BIVM-ERCC5)
NM_000123.3:c.-291G>T , LRG_464t1:c.-291G>T (ERCC5)	NP_000114.2:n.-291G>T
NM_001204425.1:c.1451-6142G>T (BIVM-ERCC5)	NP_001191354.1:n.1451-6142G>T
NM_001204425.2:c.1451-6142G>T (BIVM-ERCC5)	NP_001191354.2:n.1451-6142G>T