Canonical Allele Identifier: CA339956380

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43394897G>A (hg19) ; chr1:g.42929226G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929226G>A , CM000663.2:g.42929226G>A	GRCh38
NC_000001.10:g.43394897G>A , CM000663.1:g.43394897G>A	GRCh37
NC_000001.9:g.43167484G>A	NCBI36
NG_008232.1:g.34951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.956C>T MANE Select	ENSP00000416293.2:p.Ala319Val
ENST00000674545.1:n.274C>T
ENST00000674765.1:c.956C>T	ENSP00000501811.1:p.Ala319Val
ENST00000675112.1:n.1257C>T
ENST00000676254.1:n.1405C>T
ENST00000426263.7:c.956C>T	ENSP00000416293.2:p.Ala319Val
ENST00000439722.2:c.835C>T	ENSP00000395521.2:n.835C>T
ENST00000475162.3:c.415+1400C>T
ENST00000630287.2:c.*271C>T	ENSP00000486694.1:n.*271C>T
NM_006516.2:c.956C>T	NP_006507.2:p.Ala319Val
NM_006516.3:c.956C>T	NP_006507.2:p.Ala319Val
NM_006516.4:c.956C>T MANE Select	NP_006507.2:p.Ala319Val