Canonical Allele Identifier: CA2115203274

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1881941400
• gnomAD v4: 13-102846012-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846012C>T , CM000675.2:g.102846012C>T	GRCh38
NC_000013.10:g.103498362C>T , CM000675.1:g.103498362C>T	GRCh37
NC_000013.9:g.102296363C>T	NCBI36
NG_007146.1:g.5189C>T , LRG_464:g.5189C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683246.1:n.108C>T (ERCC5)
ENST00000638434.1:c.363-7745C>T (BIVM-ERCC5)
ENST00000639118.1:c.363-3106C>T (BIVM-ERCC5)
ENST00000639132.1:c.764-6106C>T (BIVM-ERCC5)	ENSP00000492684.1:n.764-6106C>T
ENST00000639435.1:c.1451-6106C>T (BIVM-ERCC5)	ENSP00000491742.1:n.1451-6106C>T
ENST00000651002.1:c.-255C>T (ERCC5)	ENSP00000498809.1:n.-255C>T
ENST00000652613.1:c.-752C>T (ERCC5)	ENSP00000498357.1:n.-752C>T
ENST00000355739.8:c.-255C>T (ERCC5)	ENSP00000347978.4:n.-255C>T
ENST00000535557.5:c.-255C>T (ERCC5)	ENSP00000442117.1:n.-255C>T
ENST00000602836.1:c.1365-6106C>T (BIVM-ERCC5)
NM_000123.3:c.-255C>T , LRG_464t1:c.-255C>T (ERCC5)	NP_000114.2:n.-255C>T
NM_001204425.1:c.1451-6106C>T (BIVM-ERCC5)	NP_001191354.1:n.1451-6106C>T
NM_001204425.2:c.1451-6106C>T (BIVM-ERCC5)	NP_001191354.2:n.1451-6106C>T