Canonical Allele Identifier: CA1165411538
Community Standard Title: NM_006516.4(SLC2A1):c.1199G= (p.Arg400=)
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927684C= , CM000663.2:g.42927684C= GRCh38
NC_000001.10:g.43393355C= , CM000663.1:g.43393355C= GRCh37
NC_000001.9:g.43165942C= NCBI36
NG_008232.1:g.36493G=

Transcript Alleles

HGVS Amino-acid Change
NM_006516.4:c.1199G= MANE Select NP_006507.2:p.Arg400=
ENST00000426263.10:c.1199G= MANE Select ENSP00000416293.2:p.Arg400=
NM_006516.2:c.1199G= NP_006507.2:p.Arg400=
NM_006516.3:c.1199G= NP_006507.2:p.Arg400=
ENST00000426263.7:c.1199G= ENSP00000416293.2:p.Arg400=
ENST00000475162.3:c.416-706G=
ENST00000630287.2:c.*514G= ENSP00000486694.1:n.*514G=
ENST00000674545.1:n.1816G=
ENST00000674765.1:c.1030-827G= ENSP00000501811.1:n.1030-827G=
ENST00000675112.1:n.1500G=
ENST00000676254.1:n.1648G=