Canonical Allele Identifier: CA803554
Community Standard Title: NM_006516.4(SLC2A1):c.339G>A (p.Ser113=)
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930803C>T , CM000663.2:g.42930803C>T GRCh38
NC_000001.10:g.43396474C>T , CM000663.1:g.43396474C>T GRCh37
NC_000001.9:g.43169061C>T NCBI36
NG_008232.1:g.33374G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006516.4:c.339G>A MANE Select NP_006507.2:p.Ser113=
ENST00000426263.10:c.339G>A MANE Select ENSP00000416293.2:p.Ser113=
NM_006516.2:c.339G>A NP_006507.2:p.Ser113=
NM_006516.3:c.339G>A NP_006507.2:p.Ser113=
ENST00000372500.4:c.243G>A ENSP00000361578.4:p.Ser81=
ENST00000426263.7:c.339G>A ENSP00000416293.2:p.Ser113=
ENST00000439722.2:c.218G>A ENSP00000395521.2:n.218G>A
ENST00000475162.3:c.238G>A
ENST00000625233.2:n.547G>A
ENST00000630287.2:c.339G>A ENSP00000486694.1:p.Ser113=
ENST00000674765.1:c.339G>A ENSP00000501811.1:p.Ser113=
ENST00000675112.1:n.362G>A
ENST00000676254.1:n.788G>A