Canonical Allele Identifier: CA2623613555

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102846030-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846030T>C , CM000675.2:g.102846030T>C	GRCh38
NC_000013.10:g.103498380T>C , CM000675.1:g.103498380T>C	GRCh37
NC_000013.9:g.102296381T>C	NCBI36
NG_007146.1:g.5207T>C , LRG_464:g.5207T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.5T>C (ERCC5)
ENST00000683246.1:n.126T>C (ERCC5)
ENST00000638434.1:c.363-7727T>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3088T>C (BIVM-ERCC5)
ENST00000639132.1:c.764-6088T>C (BIVM-ERCC5)	ENSP00000492684.1:n.764-6088T>C
ENST00000639435.1:c.1451-6088T>C (BIVM-ERCC5)	ENSP00000491742.1:n.1451-6088T>C
ENST00000651002.1:c.-237T>C (ERCC5)	ENSP00000498809.1:n.-237T>C
ENST00000652613.1:c.-734T>C (ERCC5)	ENSP00000498357.1:n.-734T>C
ENST00000355739.8:c.-237T>C (ERCC5)	ENSP00000347978.4:n.-237T>C
ENST00000535557.5:c.-237T>C (ERCC5)	ENSP00000442117.1:n.-237T>C
ENST00000602836.1:c.1365-6088T>C (BIVM-ERCC5)
NM_000123.3:c.-237T>C , LRG_464t1:c.-237T>C (ERCC5)	NP_000114.2:n.-237T>C
NM_001204425.1:c.1451-6088T>C (BIVM-ERCC5)	NP_001191354.1:n.1451-6088T>C
NM_001204425.2:c.1451-6088T>C (BIVM-ERCC5)	NP_001191354.2:n.1451-6088T>C