Canonical Allele Identifier: CA339956695

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43394936G>T (hg19) ; chr1:g.42929265G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929265G>T , CM000663.2:g.42929265G>T	GRCh38
NC_000001.10:g.43394936G>T , CM000663.1:g.43394936G>T	GRCh37
NC_000001.9:g.43167523G>T	NCBI36
NG_008232.1:g.34912C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.917C>A MANE Select	ENSP00000416293.2:p.Pro306His
ENST00000674545.1:n.235C>A
ENST00000674765.1:c.917C>A	ENSP00000501811.1:p.Pro306His
ENST00000675112.1:n.1218C>A
ENST00000676254.1:n.1366C>A
ENST00000426263.7:c.917C>A	ENSP00000416293.2:p.Pro306His
ENST00000439722.2:c.796C>A	ENSP00000395521.2:n.796C>A
ENST00000475162.3:c.415+1361C>A
ENST00000630287.2:c.*232C>A	ENSP00000486694.1:n.*232C>A
NM_006516.2:c.917C>A	NP_006507.2:p.Pro306His
NM_006516.3:c.917C>A	NP_006507.2:p.Pro306His
NM_006516.4:c.917C>A MANE Select	NP_006507.2:p.Pro306His