Canonical Allele Identifier: CA2599587872

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs2140511208
• gnomAD v3: 13-102846044-G-C
• gnomAD v4: 13-102846044-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846044G>C , CM000675.2:g.102846044G>C	GRCh38
NC_000013.10:g.103498394G>C , CM000675.1:g.103498394G>C	GRCh37
NC_000013.9:g.102296395G>C	NCBI36
NG_007146.1:g.5221G>C , LRG_464:g.5221G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.19G>C (ERCC5)
ENST00000682869.1:n.12G>C (ERCC5)
ENST00000683246.1:n.140G>C (ERCC5)
ENST00000684184.1:n.9G>C (ERCC5)
ENST00000638434.1:c.363-7713G>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3074G>C (BIVM-ERCC5)
ENST00000639132.1:c.764-6074G>C (BIVM-ERCC5)	ENSP00000492684.1:n.764-6074G>C
ENST00000639435.1:c.1451-6074G>C (BIVM-ERCC5)	ENSP00000491742.1:n.1451-6074G>C
ENST00000651002.1:c.-223G>C (ERCC5)	ENSP00000498809.1:n.-223G>C
ENST00000652225.2:c.-223G>C (ERCC5) MANE Select	ENSP00000498881.2:n.-223G>C
ENST00000652613.1:c.-720G>C (ERCC5)	ENSP00000498357.1:n.-720G>C
ENST00000355739.8:c.-223G>C (ERCC5)	ENSP00000347978.4:n.-223G>C
ENST00000535557.5:c.-223G>C (ERCC5)	ENSP00000442117.1:n.-223G>C
ENST00000602836.1:c.1365-6074G>C (BIVM-ERCC5)
NM_000123.3:c.-223G>C , LRG_464t1:c.-223G>C (ERCC5)	NP_000114.2:n.-223G>C
NM_001204425.1:c.1451-6074G>C (BIVM-ERCC5)	NP_001191354.1:n.1451-6074G>C
NM_000123.4:c.-223G>C (ERCC5) MANE Select	NP_000114.3:n.-223G>C
NM_001204425.2:c.1451-6074G>C (BIVM-ERCC5)	NP_001191354.2:n.1451-6074G>C