Canonical Allele Identifier: CA339953859

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927685G>T , CM000663.2:g.42927685G>T	GRCh38
NC_000001.10:g.43393356G>T , CM000663.1:g.43393356G>T	GRCh37
NC_000001.9:g.43165943G>T	NCBI36
NG_008232.1:g.36492C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.1198C>A MANE Select	NP_006507.2:p.Arg400Ser
ENST00000426263.10:c.1198C>A MANE Select	ENSP00000416293.2:p.Arg400Ser
NM_006516.2:c.1198C>A	NP_006507.2:p.Arg400Ser
NM_006516.3:c.1198C>A	NP_006507.2:p.Arg400Ser
ENST00000426263.7:c.1198C>A	ENSP00000416293.2:p.Arg400Ser
ENST00000475162.3:c.416-707C>A
ENST00000630287.2:c.*513C>A	ENSP00000486694.1:n.*513C>A
ENST00000674545.1:n.1815C>A
ENST00000674765.1:c.1030-828C>A	ENSP00000501811.1:n.1030-828C>A
ENST00000675112.1:n.1499C>A
ENST00000676254.1:n.1647C>A