Canonical Allele Identifier: CA339956299

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1024992
• ClinVar RCV Id: RCV001325248
• dbSNP Id: rs1643460170
• MyVariant Identifiers: chr1:g.43394885A>G (hg19) ; chr1:g.42929214A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929214A>G , CM000663.2:g.42929214A>G	GRCh38
NC_000001.10:g.43394885A>G , CM000663.1:g.43394885A>G	GRCh37
NC_000001.9:g.43167472A>G	NCBI36
NG_008232.1:g.34963T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.968T>C MANE Select	ENSP00000416293.2:p.Val323Ala
ENST00000674545.1:n.286T>C
ENST00000674765.1:c.968T>C	ENSP00000501811.1:p.Val323Ala
ENST00000675112.1:n.1269T>C
ENST00000676254.1:n.1417T>C
ENST00000426263.7:c.968T>C	ENSP00000416293.2:p.Val323Ala
ENST00000439722.2:c.847T>C	ENSP00000395521.2:n.847T>C
ENST00000475162.3:c.415+1412T>C
ENST00000630287.2:c.*283T>C	ENSP00000486694.1:n.*283T>C
NM_006516.2:c.968T>C	NP_006507.2:p.Val323Ala
NM_006516.3:c.968T>C	NP_006507.2:p.Val323Ala
NM_006516.4:c.968T>C MANE Select	NP_006507.2:p.Val323Ala