Canonical Allele Identifier: CA1165412193
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929274A= , CM000663.2:g.42929274A= GRCh38
NC_000001.10:g.43394945A= , CM000663.1:g.43394945A= GRCh37
NC_000001.9:g.43167532A= NCBI36
NG_008232.1:g.34903T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.908T= MANE Select ENSP00000416293.2:p.Val303=
ENST00000674545.1:n.226T=
ENST00000674765.1:c.908T= ENSP00000501811.1:p.Val303=
ENST00000675112.1:n.1209T=
ENST00000676254.1:n.1357T=
ENST00000426263.7:c.908T= ENSP00000416293.2:p.Val303=
ENST00000439722.2:c.787T= ENSP00000395521.2:n.787T=
ENST00000475162.3:c.415+1352T=
ENST00000630287.2:c.*223T= ENSP00000486694.1:n.*223T=
NM_006516.2:c.908T= NP_006507.2:p.Val303=
NM_006516.3:c.908T= NP_006507.2:p.Val303=
NM_006516.4:c.908T= MANE Select NP_006507.2:p.Val303=