Canonical Allele Identifier: CA339960977

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43396437G>T (hg19) ; chr1:g.42930766G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930766G>T , CM000663.2:g.42930766G>T	GRCh38
NC_000001.10:g.43396437G>T , CM000663.1:g.43396437G>T	GRCh37
NC_000001.9:g.43169024G>T	NCBI36
NG_008232.1:g.33411C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.376C>A MANE Select	ENSP00000416293.2:p.Arg126Ser
ENST00000674765.1:c.376C>A	ENSP00000501811.1:p.Arg126Ser
ENST00000675112.1:n.399C>A
ENST00000676254.1:n.825C>A
ENST00000372500.4:c.280C>A	ENSP00000361578.4:p.Arg94Ser
ENST00000426263.7:c.376C>A	ENSP00000416293.2:p.Arg126Ser
ENST00000439722.2:c.255C>A	ENSP00000395521.2:n.255C>A
ENST00000475162.3:c.275C>A
ENST00000625233.2:n.584C>A
ENST00000630287.2:c.376C>A	ENSP00000486694.1:p.Arg126Ser
NM_006516.2:c.376C>A	NP_006507.2:p.Arg126Ser
NM_006516.3:c.376C>A	NP_006507.2:p.Arg126Ser
NM_006516.4:c.376C>A MANE Select	NP_006507.2:p.Arg126Ser