Canonical Allele Identifier: CA388574225

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102862908-A-C
• MyVariant Identifiers: chr13:g.103515258A>C (hg19) ; chr13:g.102862908A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862908A>C , CM000675.2:g.102862908A>C	GRCh38
NC_000013.10:g.103515258A>C , CM000675.1:g.103515258A>C	GRCh37
NC_000013.9:g.102313259A>C	NCBI36
NG_007146.1:g.22085A>C , LRG_464:g.22085A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.2000A>C (ERCC5)
ENST00000682869.1:n.2408A>C (ERCC5)
ENST00000683246.1:n.2536A>C (ERCC5)
ENST00000639132.1:c.2434A>C (BIVM-ERCC5)	ENSP00000492684.1:p.Ser812Arg
ENST00000639435.1:c.3121A>C (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1041Arg
ENST00000651002.1:c.*1520A>C (ERCC5)	ENSP00000498809.1:n.*1520A>C
ENST00000651055.1:n.1888A>C (ERCC5)
ENST00000651281.1:n.2127A>C (ERCC5)
ENST00000651387.1:n.1243A>C (ERCC5)
ENST00000651470.1:c.1759A>C (ERCC5)	ENSP00000498701.1:p.Ser587Arg
ENST00000652225.2:c.1759A>C (ERCC5) MANE Select	ENSP00000498881.2:p.Ser587Arg
ENST00000652613.1:c.1255A>C (ERCC5)	ENSP00000498357.1:p.Ser419Arg
ENST00000355739.8:c.1759A>C (ERCC5)	ENSP00000347978.4:p.Ser587Arg
ENST00000602836.1:c.3035A>C (BIVM-ERCC5)
ENST00000610537.4:c.1759A>C (ERCC5)	ENSP00000478667.1:p.Ser587Arg
NM_000123.3:c.1759A>C , LRG_464t1:c.1759A>C (ERCC5)	NP_000114.2:p.Ser587Arg
NM_001204425.1:c.3121A>C (BIVM-ERCC5)	NP_001191354.1:p.Ser1041Arg
NM_000123.4:c.1759A>C (ERCC5) MANE Select	NP_000114.3:p.Ser587Arg
NM_001204425.2:c.3121A>C (BIVM-ERCC5)	NP_001191354.2:p.Ser1041Arg