Canonical Allele Identifier: CA255208269

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs999301724
• gnomAD v2: 13-103498602-G-C
• gnomAD v3: 13-102846252-G-C
• gnomAD v4: 13-102846252-G-C
• MyVariant Identifiers: chr13:g.103498602G>C (hg19) ; chr13:g.102846252G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846252G>C , CM000675.2:g.102846252G>C	GRCh38
NC_000013.10:g.103498602G>C , CM000675.1:g.103498602G>C	GRCh37
NC_000013.9:g.102296603G>C	NCBI36
NG_007146.1:g.5429G>C , LRG_464:g.5429G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.227G>C (ERCC5)
ENST00000682869.1:n.220G>C (ERCC5)
ENST00000683246.1:n.348G>C (ERCC5)
ENST00000684184.1:n.217G>C (ERCC5)
ENST00000638434.1:c.363-7505G>C (BIVM-ERCC5)
ENST00000639118.1:c.363-2866G>C (BIVM-ERCC5)
ENST00000639132.1:c.764-5866G>C (BIVM-ERCC5)	ENSP00000492684.1:n.764-5866G>C
ENST00000639435.1:c.1451-5866G>C (BIVM-ERCC5)	ENSP00000491742.1:n.1451-5866G>C
ENST00000651002.1:c.-15G>C (ERCC5)	ENSP00000498809.1:n.-15G>C
ENST00000651470.1:c.-15G>C (ERCC5)	ENSP00000498701.1:n.-15G>C
ENST00000652225.2:c.-15G>C (ERCC5) MANE Select	ENSP00000498881.2:n.-15G>C
ENST00000652613.1:c.-512G>C (ERCC5)	ENSP00000498357.1:n.-512G>C
ENST00000355739.8:c.-15G>C (ERCC5)	ENSP00000347978.4:n.-15G>C
ENST00000375958.3:n.141G>C (ERCC5)
ENST00000472151.1:c.-15G>C (ERCC5)	ENSP00000436083.1:n.-15G>C
ENST00000535557.5:c.-15G>C (ERCC5)	ENSP00000442117.1:n.-15G>C
ENST00000602836.1:c.1365-5866G>C (BIVM-ERCC5)
NM_000123.3:c.-15G>C , LRG_464t1:c.-15G>C (ERCC5)	NP_000114.2:n.-15G>C
NM_001204425.1:c.1451-5866G>C (BIVM-ERCC5)	NP_001191354.1:n.1451-5866G>C
NM_000123.4:c.-15G>C (ERCC5) MANE Select	NP_000114.3:n.-15G>C
NM_001204425.2:c.1451-5866G>C (BIVM-ERCC5)	NP_001191354.2:n.1451-5866G>C