Canonical Allele Identifier: CA339956081

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929018G>C , CM000663.2:g.42929018G>C	GRCh38
NC_000001.10:g.43394689G>C , CM000663.1:g.43394689G>C	GRCh37
NC_000001.9:g.43167276G>C	NCBI36
NG_008232.1:g.35159C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.988C>G MANE Select	NP_006507.2:p.Arg330Gly
ENST00000426263.10:c.988C>G MANE Select	ENSP00000416293.2:p.Arg330Gly
NM_006516.2:c.988C>G	NP_006507.2:p.Arg330Gly
NM_006516.3:c.988C>G	NP_006507.2:p.Arg330Gly
ENST00000426263.7:c.988C>G	ENSP00000416293.2:p.Arg330Gly
ENST00000475162.3:c.415+1608C>G
ENST00000630287.2:c.*303C>G	ENSP00000486694.1:n.*303C>G
ENST00000674545.1:n.482C>G
ENST00000674765.1:c.988C>G	ENSP00000501811.1:p.Arg330Gly
ENST00000675112.1:n.1289C>G
ENST00000676254.1:n.1437C>G