Canonical Allele Identifier: CA2623613554

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102846029-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846029T>C , CM000675.2:g.102846029T>C	GRCh38
NC_000013.10:g.103498379T>C , CM000675.1:g.103498379T>C	GRCh37
NC_000013.9:g.102296380T>C	NCBI36
NG_007146.1:g.5206T>C , LRG_464:g.5206T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4T>C (ERCC5)
ENST00000683246.1:n.125T>C (ERCC5)
ENST00000638434.1:c.363-7728T>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3089T>C (BIVM-ERCC5)
ENST00000639132.1:c.764-6089T>C (BIVM-ERCC5)	ENSP00000492684.1:n.764-6089T>C
ENST00000639435.1:c.1451-6089T>C (BIVM-ERCC5)	ENSP00000491742.1:n.1451-6089T>C
ENST00000651002.1:c.-238T>C (ERCC5)	ENSP00000498809.1:n.-238T>C
ENST00000652613.1:c.-735T>C (ERCC5)	ENSP00000498357.1:n.-735T>C
ENST00000355739.8:c.-238T>C (ERCC5)	ENSP00000347978.4:n.-238T>C
ENST00000535557.5:c.-238T>C (ERCC5)	ENSP00000442117.1:n.-238T>C
ENST00000602836.1:c.1365-6089T>C (BIVM-ERCC5)
NM_000123.3:c.-238T>C , LRG_464t1:c.-238T>C (ERCC5)	NP_000114.2:n.-238T>C
NM_001204425.1:c.1451-6089T>C (BIVM-ERCC5)	NP_001191354.1:n.1451-6089T>C
NM_001204425.2:c.1451-6089T>C (BIVM-ERCC5)	NP_001191354.2:n.1451-6089T>C