Canonical Allele Identifier: CA2623613487

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102846014-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846014T>G , CM000675.2:g.102846014T>G	GRCh38
NC_000013.10:g.103498364T>G , CM000675.1:g.103498364T>G	GRCh37
NC_000013.9:g.102296365T>G	NCBI36
NG_007146.1:g.5191T>G , LRG_464:g.5191T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683246.1:n.110T>G (ERCC5)
ENST00000638434.1:c.363-7743T>G (BIVM-ERCC5)
ENST00000639118.1:c.363-3104T>G (BIVM-ERCC5)
ENST00000639132.1:c.764-6104T>G (BIVM-ERCC5)	ENSP00000492684.1:n.764-6104T>G
ENST00000639435.1:c.1451-6104T>G (BIVM-ERCC5)	ENSP00000491742.1:n.1451-6104T>G
ENST00000651002.1:c.-253T>G (ERCC5)	ENSP00000498809.1:n.-253T>G
ENST00000652613.1:c.-750T>G (ERCC5)	ENSP00000498357.1:n.-750T>G
ENST00000355739.8:c.-253T>G (ERCC5)	ENSP00000347978.4:n.-253T>G
ENST00000535557.5:c.-253T>G (ERCC5)	ENSP00000442117.1:n.-253T>G
ENST00000602836.1:c.1365-6104T>G (BIVM-ERCC5)
NM_000123.3:c.-253T>G , LRG_464t1:c.-253T>G (ERCC5)	NP_000114.2:n.-253T>G
NM_001204425.1:c.1451-6104T>G (BIVM-ERCC5)	NP_001191354.1:n.1451-6104T>G
NM_001204425.2:c.1451-6104T>G (BIVM-ERCC5)	NP_001191354.2:n.1451-6104T>G