Canonical Allele Identifier: CA339956663

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43394930T>A (hg19) ; chr1:g.42929259T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929259T>A , CM000663.2:g.42929259T>A	GRCh38
NC_000001.10:g.43394930T>A , CM000663.1:g.43394930T>A	GRCh37
NC_000001.9:g.43167517T>A	NCBI36
NG_008232.1:g.34918A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.923A>T MANE Select	ENSP00000416293.2:p.Tyr308Phe
ENST00000674545.1:n.241A>T
ENST00000674765.1:c.923A>T	ENSP00000501811.1:p.Tyr308Phe
ENST00000675112.1:n.1224A>T
ENST00000676254.1:n.1372A>T
ENST00000426263.7:c.923A>T	ENSP00000416293.2:p.Tyr308Phe
ENST00000439722.2:c.802A>T	ENSP00000395521.2:n.802A>T
ENST00000475162.3:c.415+1367A>T
ENST00000630287.2:c.*238A>T	ENSP00000486694.1:n.*238A>T
NM_006516.2:c.923A>T	NP_006507.2:p.Tyr308Phe
NM_006516.3:c.923A>T	NP_006507.2:p.Tyr308Phe
NM_006516.4:c.923A>T MANE Select	NP_006507.2:p.Tyr308Phe