Canonical Allele Identifier: CA018969

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 159921
• ClinVar RCV Id: RCV000147518
• dbSNP Id: rs587784390
• MyVariant Identifiers: chr1:g.43408911T>C (hg19) ; chr1:g.42943240T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943240T>C , CM000663.2:g.42943240T>C	GRCh38
NC_000001.10:g.43408911T>C , CM000663.1:g.43408911T>C	GRCh37
NC_000001.9:g.43181498T>C	NCBI36
NG_008232.1:g.20937A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.100A>G MANE Select	ENSP00000416293.2:p.Asn34Asp
ENST00000674765.1:c.100A>G	ENSP00000501811.1:p.Asn34Asp
ENST00000675112.1:n.123A>G
ENST00000372500.4:c.19-12034A>G	ENSP00000361578.4:n.19-12034A>G
ENST00000415851.6:n.317A>G
ENST00000426263.7:c.100A>G	ENSP00000416293.2:p.Asn34Asp
ENST00000625233.2:n.308A>G
ENST00000628173.1:n.319A>G
ENST00000630287.2:c.100A>G	ENSP00000486694.1:p.Asn34Asp
ENST00000630821.1:n.317A>G
NM_006516.2:c.100A>G	NP_006507.2:p.Asn34Asp
NM_006516.3:c.100A>G	NP_006507.2:p.Asn34Asp
NM_006516.4:c.100A>G MANE Select	NP_006507.2:p.Asn34Asp