Canonical Allele Identifier: CA376708704

Gene: ERCC6

Linked Data

• dbSNP Id: rs1427584938
• MyVariant Identifiers: chr10:g.50669578T>C (hg19) ; chr10:g.49461532T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461532T>C , CM000672.2:g.49461532T>C	GRCh38
NC_000010.10:g.50669578T>C , CM000672.1:g.50669578T>C	GRCh37
NC_000010.9:g.50339584T>C	NCBI36
NG_009442.1:g.82570A>G , LRG_465:g.82570A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3803A>G MANE Select	ENSP00000348089.5:p.His1268Arg
ENST00000679552.1:n.874A>G
ENST00000679871.1:n.949A>G
ENST00000679974.1:n.852A>G
ENST00000681632.1:n.5206A>G
ENST00000681659.1:c.3644A>G	ENSP00000505631.1:p.His1215Arg
ENST00000355832.9:c.3803A>G	ENSP00000348089.5:p.His1268Arg
ENST00000465653.1:n.125A>G
ENST00000623073.3:c.*2099A>G	ENSP00000485650.1:n.*2099A>G
ENST00000623115.3:c.1913A>G	ENSP00000485321.1:p.His638Arg
ENST00000624341.3:c.1635A>G
NM_000124.3:c.3803A>G	NP_000115.1:p.His1268Arg
XR_945953.1:n.243-10033T>C
NM_001346440.1:c.3803A>G	NP_001333369.1:p.His1268Arg
NM_000124.4:c.3803A>G MANE Select	NP_000115.1:p.His1268Arg
NM_001346440.2:c.3803A>G	NP_001333369.1:p.His1268Arg