Canonical Allele Identifier: CA388673545

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1248388142
• gnomAD v4: 13-102873306-C-G
• MyVariant Identifiers: chr13:g.103525656C>G (hg19) ; chr13:g.102873306C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873306C>G , CM000675.2:g.102873306C>G	GRCh38
NC_000013.10:g.103525656C>G , CM000675.1:g.103525656C>G	GRCh37
NC_000013.9:g.102323657C>G	NCBI36
NG_007146.1:g.32483C>G , LRG_464:g.32483C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4028C>G (ERCC5)
ENST00000682869.1:n.3576C>G (ERCC5)
ENST00000683246.1:n.4564C>G (ERCC5)
ENST00000683642.1:n.3157C>G (ERCC5)
ENST00000639132.1:c.3602C>G (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1201Cys
ENST00000639435.1:c.4289C>G (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1430Cys
ENST00000651002.1:c.*2688C>G (ERCC5)	ENSP00000498809.1:n.*2688C>G
ENST00000651055.1:n.3054C>G (ERCC5)
ENST00000651281.1:n.3295C>G (ERCC5)
ENST00000651387.1:n.2411C>G (ERCC5)
ENST00000651470.1:c.*99C>G (ERCC5)	ENSP00000498701.1:n.*99C>G
ENST00000652225.2:c.2927C>G (ERCC5) MANE Select	ENSP00000498881.2:p.Ser976Cys
ENST00000652613.1:c.2423C>G (ERCC5)	ENSP00000498357.1:p.Ser808Cys
ENST00000355739.8:c.2927C>G (ERCC5)	ENSP00000347978.4:p.Ser976Cys
ENST00000375954.1:c.626C>G (ERCC5)	ENSP00000365121.1:p.Ser209Cys
ENST00000610537.4:c.2924C>G (ERCC5)	ENSP00000478667.1:p.Ser975Cys
NM_000123.3:c.2927C>G , LRG_464t1:c.2927C>G (ERCC5)	NP_000114.2:p.Ser976Cys
NM_001204425.1:c.4289C>G (BIVM-ERCC5)	NP_001191354.1:p.Ser1430Cys
NM_000123.4:c.2927C>G (ERCC5) MANE Select	NP_000114.3:p.Ser976Cys
NM_001204425.2:c.4289C>G (BIVM-ERCC5)	NP_001191354.2:p.Ser1430Cys