Canonical Allele Identifier: CA339956631

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643460921
• MyVariant Identifiers: chr1:g.43394925T>C (hg19) ; chr1:g.42929254T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929254T>C , CM000663.2:g.42929254T>C	GRCh38
NC_000001.10:g.43394925T>C , CM000663.1:g.43394925T>C	GRCh37
NC_000001.9:g.43167512T>C	NCBI36
NG_008232.1:g.34923A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.928A>G MANE Select	ENSP00000416293.2:p.Thr310Ala
ENST00000674545.1:n.246A>G
ENST00000674765.1:c.928A>G	ENSP00000501811.1:p.Thr310Ala
ENST00000675112.1:n.1229A>G
ENST00000676254.1:n.1377A>G
ENST00000426263.7:c.928A>G	ENSP00000416293.2:p.Thr310Ala
ENST00000439722.2:c.807A>G	ENSP00000395521.2:n.807A>G
ENST00000475162.3:c.415+1372A>G
ENST00000630287.2:c.*243A>G	ENSP00000486694.1:n.*243A>G
NM_006516.2:c.928A>G	NP_006507.2:p.Thr310Ala
NM_006516.3:c.928A>G	NP_006507.2:p.Thr310Ala
NM_006516.4:c.928A>G MANE Select	NP_006507.2:p.Thr310Ala