Canonical Allele Identifier: CA5495649

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 300065
• ClinVar RCV Id: RCV000297552 ; RCV000337332 ; RCV000406159 ; RCV000941084
• dbSNP Id: rs200079929
• ExAC: 10:50682274 A / G
• gnomAD v2: 10-50682274-A-G
• gnomAD v3: 10-49474228-A-G
• gnomAD v4: 10-49474228-A-G
• MyVariant Identifiers: chr10:g.50682274A>G (hg19) ; chr10:g.49474228A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49474228A>G , CM000672.2:g.49474228A>G	GRCh38
NC_000010.10:g.50682274A>G , CM000672.1:g.50682274A>G	GRCh37
NC_000010.9:g.50352280A>G	NCBI36
NG_009442.1:g.69874T>C , LRG_465:g.69874T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2397T>C MANE Select	ENSP00000348089.5:p.Leu799=
ENST00000681632.1:n.2475T>C
ENST00000681659.1:c.2238T>C	ENSP00000505631.1:p.Leu746=
ENST00000355832.9:c.2397T>C	ENSP00000348089.5:p.Leu799=
ENST00000623073.3:c.*693T>C	ENSP00000485650.1:n.*693T>C
ENST00000623115.3:c.507T>C	ENSP00000485321.1:p.Leu169=
ENST00000624341.3:c.229T>C
NM_000124.3:c.2397T>C	NP_000115.1:p.Leu799=
NM_001346440.1:c.2397T>C	NP_001333369.1:p.Leu799=
NM_000124.4:c.2397T>C MANE Select	NP_000115.1:p.Leu799=
NM_001346440.2:c.2397T>C	NP_001333369.1:p.Leu799=