Canonical Allele Identifier: CA1149147212
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929250A= , CM000663.2:g.42929250A= GRCh38
NC_000001.10:g.43394921A= , CM000663.1:g.43394921A= GRCh37
NC_000001.9:g.43167508A= NCBI36
NG_008232.1:g.34927T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.932T= MANE Select ENSP00000416293.2:p.Ile311=
ENST00000674545.1:n.250T=
ENST00000674765.1:c.932T= ENSP00000501811.1:p.Ile311=
ENST00000675112.1:n.1233T=
ENST00000676254.1:n.1381T=
ENST00000426263.7:c.932T= ENSP00000416293.2:p.Ile311=
ENST00000439722.2:c.811T= ENSP00000395521.2:n.811T=
ENST00000475162.3:c.415+1376T=
ENST00000630287.2:c.*247T= ENSP00000486694.1:n.*247T=
NM_006516.2:c.932T= NP_006507.2:p.Ile311=
NM_006516.3:c.932T= NP_006507.2:p.Ile311=
NM_006516.4:c.932T= MANE Select NP_006507.2:p.Ile311=