Canonical Allele Identifier: CA10638888

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 310905
• ClinVar RCV Id: RCV000335910
• dbSNP Id: rs4150249
• gnomAD v2: 13-103498376-G-C
• gnomAD v3: 13-102846026-G-C
• gnomAD v4: 13-102846026-G-C
• MyVariant Identifiers: chr13:g.103498376G>C (hg19) ; chr13:g.102846026G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846026G>C , CM000675.2:g.102846026G>C	GRCh38
NC_000013.10:g.103498376G>C , CM000675.1:g.103498376G>C	GRCh37
NC_000013.9:g.102296377G>C	NCBI36
NG_007146.1:g.5203G>C , LRG_464:g.5203G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.1G>C (ERCC5)
ENST00000683246.1:n.122G>C (ERCC5)
ENST00000638434.1:c.363-7731G>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3092G>C (BIVM-ERCC5)
ENST00000639132.1:c.764-6092G>C (BIVM-ERCC5)	ENSP00000492684.1:n.764-6092G>C
ENST00000639435.1:c.1451-6092G>C (BIVM-ERCC5)	ENSP00000491742.1:n.1451-6092G>C
ENST00000651002.1:c.-241G>C (ERCC5)	ENSP00000498809.1:n.-241G>C
ENST00000652613.1:c.-738G>C (ERCC5)	ENSP00000498357.1:n.-738G>C
ENST00000355739.8:c.-241G>C (ERCC5)	ENSP00000347978.4:n.-241G>C
ENST00000535557.5:c.-241G>C (ERCC5)	ENSP00000442117.1:n.-241G>C
ENST00000602836.1:c.1365-6092G>C (BIVM-ERCC5)
NM_000123.3:c.-241G>C , LRG_464t1:c.-241G>C (ERCC5)	NP_000114.2:n.-241G>C
NM_001204425.1:c.1451-6092G>C (BIVM-ERCC5)	NP_001191354.1:n.1451-6092G>C
NM_001204425.2:c.1451-6092G>C (BIVM-ERCC5)	NP_001191354.2:n.1451-6092G>C