Canonical Allele Identifier: CA339956418

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2436011
• ClinVar RCV Id: RCV003136761
• MyVariant Identifiers: chr1:g.43394901T>C (hg19) ; chr1:g.42929230T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929230T>C , CM000663.2:g.42929230T>C	GRCh38
NC_000001.10:g.43394901T>C , CM000663.1:g.43394901T>C	GRCh37
NC_000001.9:g.43167488T>C	NCBI36
NG_008232.1:g.34947A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.952A>G MANE Select	ENSP00000416293.2:p.Thr318Ala
ENST00000674545.1:n.270A>G
ENST00000674765.1:c.952A>G	ENSP00000501811.1:p.Thr318Ala
ENST00000675112.1:n.1253A>G
ENST00000676254.1:n.1401A>G
ENST00000426263.7:c.952A>G	ENSP00000416293.2:p.Thr318Ala
ENST00000439722.2:c.831A>G	ENSP00000395521.2:n.831A>G
ENST00000475162.3:c.415+1396A>G
ENST00000630287.2:c.*267A>G	ENSP00000486694.1:n.*267A>G
NM_006516.2:c.952A>G	NP_006507.2:p.Thr318Ala
NM_006516.3:c.952A>G	NP_006507.2:p.Thr318Ala
NM_006516.4:c.952A>G MANE Select	NP_006507.2:p.Thr318Ala