Canonical Allele Identifier: CA959649970

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1442802052
• gnomAD v3: 13-102855813-G-A
• gnomAD v4: 13-102855813-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102855813G>A , CM000675.2:g.102855813G>A	GRCh38
NC_000013.10:g.103508163G>A , CM000675.1:g.103508163G>A	GRCh37
NC_000013.9:g.102306164G>A	NCBI36
NG_007146.1:g.14990G>A , LRG_464:g.14990G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.709-239G>A (ERCC5)
ENST00000682869.1:n.1117-239G>A (ERCC5)
ENST00000683246.1:n.1245-239G>A (ERCC5)
ENST00000684184.1:n.1114-239G>A (ERCC5)
ENST00000638434.1:c.566-239G>A (BIVM-ERCC5)
ENST00000639132.1:c.1143-239G>A (BIVM-ERCC5)	ENSP00000492684.1:n.1143-239G>A
ENST00000639435.1:c.1830-239G>A (BIVM-ERCC5)	ENSP00000491742.1:n.1830-239G>A
ENST00000651002.1:c.*229-239G>A (ERCC5)	ENSP00000498809.1:n.*229-239G>A
ENST00000651055.1:n.597-239G>A (ERCC5)
ENST00000651281.1:n.836-239G>A (ERCC5)
ENST00000651470.1:c.468-239G>A (ERCC5)	ENSP00000498701.1:n.468-239G>A
ENST00000652225.2:c.468-239G>A (ERCC5) MANE Select	ENSP00000498881.2:n.468-239G>A
ENST00000652613.1:c.-37-239G>A (ERCC5)	ENSP00000498357.1:n.-37-239G>A
ENST00000355739.8:c.468-239G>A (ERCC5)	ENSP00000347978.4:n.468-239G>A
ENST00000535557.5:c.468-239G>A (ERCC5)	ENSP00000442117.1:n.468-239G>A
ENST00000602836.1:c.1744-239G>A (BIVM-ERCC5)
ENST00000610537.4:c.468-239G>A (ERCC5)	ENSP00000478667.1:n.468-239G>A
NM_000123.3:c.468-239G>A , LRG_464t1:c.468-239G>A (ERCC5)	NP_000114.2:n.468-239G>A
NM_001204425.1:c.1830-239G>A (BIVM-ERCC5)	NP_001191354.1:n.1830-239G>A
NM_000123.4:c.468-239G>A (ERCC5) MANE Select	NP_000114.3:n.468-239G>A
NM_001204425.2:c.1830-239G>A (BIVM-ERCC5)	NP_001191354.2:n.1830-239G>A