Canonical Allele Identifier: CA019390

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929009G>A , CM000663.2:g.42929009G>A	GRCh38
NC_000001.10:g.43394680G>A , CM000663.1:g.43394680G>A	GRCh37
NC_000001.9:g.43167267G>A	NCBI36
NG_008232.1:g.35168C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.997C>T MANE Select	ENSP00000416293.2:p.Arg333Trp
ENST00000674545.1:n.491C>T
ENST00000674765.1:c.997C>T	ENSP00000501811.1:p.Arg333Trp
ENST00000675112.1:n.1298C>T
ENST00000676254.1:n.1446C>T
ENST00000426263.7:c.997C>T	ENSP00000416293.2:p.Arg333Trp
ENST00000475162.3:c.415+1617C>T
ENST00000630287.2:c.*312C>T	ENSP00000486694.1:n.*312C>T
NM_006516.2:c.997C>T	NP_006507.2:p.Arg333Trp
NM_006516.3:c.997C>T	NP_006507.2:p.Arg333Trp
NM_006516.4:c.997C>T MANE Select	NP_006507.2:p.Arg333Trp