Canonical Allele Identifier: CA612360415

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs761757319
• gnomAD v2: 13-103518942-G-C
• gnomAD v4: 13-102866592-G-C
• MyVariant Identifiers: chr13:g.103518942G>C (hg19) ; chr13:g.102866592G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102866592G>C , CM000675.2:g.102866592G>C	GRCh38
NC_000013.10:g.103518942G>C , CM000675.1:g.103518942G>C	GRCh37
NC_000013.9:g.102316943G>C	NCBI36
NG_007146.1:g.25769G>C , LRG_464:g.25769G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.2561-40G>C (ERCC5)
ENST00000682869.1:n.2969-40G>C (ERCC5)
ENST00000683246.1:n.3097-40G>C (ERCC5)
ENST00000639132.1:c.2995-40G>C (BIVM-ERCC5)	ENSP00000492684.1:n.2995-40G>C
ENST00000639435.1:c.3682-40G>C (BIVM-ERCC5)	ENSP00000491742.1:n.3682-40G>C
ENST00000651002.1:c.*2081-40G>C (ERCC5)	ENSP00000498809.1:n.*2081-40G>C
ENST00000651055.1:n.2449-40G>C (ERCC5)
ENST00000651281.1:n.2688-40G>C (ERCC5)
ENST00000651387.1:n.1804-40G>C (ERCC5)
ENST00000651470.1:c.2320-40G>C (ERCC5)	ENSP00000498701.1:n.2320-40G>C
ENST00000652225.2:c.2320-40G>C (ERCC5) MANE Select	ENSP00000498881.2:n.2320-40G>C
ENST00000652613.1:c.1816-40G>C (ERCC5)	ENSP00000498357.1:n.1816-40G>C
ENST00000355739.8:c.2320-40G>C (ERCC5)	ENSP00000347978.4:n.2320-40G>C
ENST00000375954.1:c.19-40G>C (ERCC5)	ENSP00000365121.1:n.19-40G>C
ENST00000481099.1:n.440-40G>C (ERCC5)
ENST00000602836.1:c.3596-40G>C (BIVM-ERCC5)
ENST00000610537.4:c.2320-40G>C (ERCC5)	ENSP00000478667.1:n.2320-40G>C
NM_000123.3:c.2320-40G>C , LRG_464t1:c.2320-40G>C (ERCC5)	NP_000114.2:n.2320-40G>C
NM_001204425.1:c.3682-40G>C (BIVM-ERCC5)	NP_001191354.1:n.3682-40G>C
NM_000123.4:c.2320-40G>C (ERCC5) MANE Select	NP_000114.3:n.2320-40G>C
NM_001204425.2:c.3682-40G>C (BIVM-ERCC5)	NP_001191354.2:n.3682-40G>C