Canonical Allele Identifier: CA339956837

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43394958C>A (hg19) ; chr1:g.42929287C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929287C>A , CM000663.2:g.42929287C>A	GRCh38
NC_000001.10:g.43394958C>A , CM000663.1:g.43394958C>A	GRCh37
NC_000001.9:g.43167545C>A	NCBI36
NG_008232.1:g.34890G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.895G>T MANE Select	ENSP00000416293.2:p.Glu299Ter
ENST00000674545.1:n.213G>T
ENST00000674765.1:c.895G>T	ENSP00000501811.1:p.Glu299Ter
ENST00000675112.1:n.1196G>T
ENST00000676254.1:n.1344G>T
ENST00000426263.7:c.895G>T	ENSP00000416293.2:p.Glu299Ter
ENST00000439722.2:c.774G>T	ENSP00000395521.2:n.774G>T
ENST00000475162.3:c.415+1339G>T
ENST00000630287.2:c.*210G>T	ENSP00000486694.1:n.*210G>T
NM_006516.2:c.895G>T	NP_006507.2:p.Glu299Ter
NM_006516.3:c.895G>T	NP_006507.2:p.Glu299Ter
NM_006516.4:c.895G>T MANE Select	NP_006507.2:p.Glu299Ter