Canonical Allele Identifier: CA255229212

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1047778
• MyVariant Identifiers: chr13:g.103519047C>A (hg19) ; chr13:g.102866697C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102866697C>A , CM000675.2:g.102866697C>A	GRCh38
NC_000013.10:g.103519047C>A , CM000675.1:g.103519047C>A	GRCh37
NC_000013.9:g.102317048C>A	NCBI36
NG_007146.1:g.25874C>A , LRG_464:g.25874C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.2626C>A (ERCC5)
ENST00000682869.1:n.3034C>A (ERCC5)
ENST00000683246.1:n.3162C>A (ERCC5)
ENST00000639132.1:c.3060C>A (BIVM-ERCC5)	ENSP00000492684.1:p.Ala1020=
ENST00000639435.1:c.3747C>A (BIVM-ERCC5)	ENSP00000491742.1:p.Ala1249=
ENST00000651002.1:c.*2146C>A (ERCC5)	ENSP00000498809.1:n.*2146C>A
ENST00000651055.1:n.2514C>A (ERCC5)
ENST00000651281.1:n.2753C>A (ERCC5)
ENST00000651387.1:n.1869C>A (ERCC5)
ENST00000651470.1:c.2385C>A (ERCC5)	ENSP00000498701.1:p.Ala795=
ENST00000652225.2:c.2385C>A (ERCC5) MANE Select	ENSP00000498881.2:p.Ala795=
ENST00000652613.1:c.1881C>A (ERCC5)	ENSP00000498357.1:p.Ala627=
ENST00000355739.8:c.2385C>A (ERCC5)	ENSP00000347978.4:p.Ala795=
ENST00000375954.1:c.84C>A (ERCC5)	ENSP00000365121.1:p.Ala28=
ENST00000481099.1:n.505C>A (ERCC5)
ENST00000602836.1:c.3661C>A (BIVM-ERCC5)
ENST00000610537.4:c.2385C>A (ERCC5)	ENSP00000478667.1:p.Ala795=
NM_000123.3:c.2385C>A , LRG_464t1:c.2385C>A (ERCC5)	NP_000114.2:p.Ala795=
NM_001204425.1:c.3747C>A (BIVM-ERCC5)	NP_001191354.1:p.Ala1249=
NM_000123.4:c.2385C>A (ERCC5) MANE Select	NP_000114.3:p.Ala795=
NM_001204425.2:c.3747C>A (BIVM-ERCC5)	NP_001191354.2:p.Ala1249=