Canonical Allele Identifier: CA959657030

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1881937829
• gnomAD v3: 13-102845944-A-C
• gnomAD v4: 13-102845944-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845944A>C , CM000675.2:g.102845944A>C	GRCh38
NC_000013.10:g.103498294A>C , CM000675.1:g.103498294A>C	GRCh37
NC_000013.9:g.102296295A>C	NCBI36
NG_007146.1:g.5121A>C , LRG_464:g.5121A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683246.1:n.40A>C (ERCC5)
ENST00000638434.1:c.363-7813A>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3174A>C (BIVM-ERCC5)
ENST00000639132.1:c.763+6141A>C (BIVM-ERCC5)	ENSP00000492684.1:n.763+6141A>C
ENST00000639435.1:c.1450+6141A>C (BIVM-ERCC5)	ENSP00000491742.1:n.1450+6141A>C
ENST00000651002.1:c.-323A>C (ERCC5)	ENSP00000498809.1:n.-323A>C
ENST00000652613.1:c.-820A>C (ERCC5)	ENSP00000498357.1:n.-820A>C
ENST00000355739.8:c.-323A>C (ERCC5)	ENSP00000347978.4:n.-323A>C
ENST00000535557.5:c.-323A>C (ERCC5)	ENSP00000442117.1:n.-323A>C
ENST00000602836.1:c.1364+6141A>C (BIVM-ERCC5)
NM_000123.3:c.-323A>C , LRG_464t1:c.-323A>C (ERCC5)	NP_000114.2:n.-323A>C
NM_001204425.1:c.1450+6141A>C (BIVM-ERCC5)	NP_001191354.1:n.1450+6141A>C
NM_001204425.2:c.1450+6141A>C (BIVM-ERCC5)	NP_001191354.2:n.1450+6141A>C