Canonical Allele Identifier: CA339958558
Community Standard Title: NM_006516.4(SLC2A1):c.628A>C (p.Ser210Arg)
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929924T>G , CM000663.2:g.42929924T>G GRCh38
NC_000001.10:g.43395595T>G , CM000663.1:g.43395595T>G GRCh37
NC_000001.9:g.43168182T>G NCBI36
NG_008232.1:g.34253A>C

Transcript Alleles

HGVS Amino-acid Change
NM_006516.4:c.628A>C MANE Select NP_006507.2:p.Ser210Arg
ENST00000426263.10:c.628A>C MANE Select ENSP00000416293.2:p.Ser210Arg
NM_006516.2:c.628A>C NP_006507.2:p.Ser210Arg
NM_006516.3:c.628A>C NP_006507.2:p.Ser210Arg
ENST00000426263.7:c.628A>C ENSP00000416293.2:p.Ser210Arg
ENST00000439722.2:c.507A>C ENSP00000395521.2:n.507A>C
ENST00000475162.3:c.415+702A>C
ENST00000630287.2:c.517-144A>C ENSP00000486694.1:n.517-144A>C
ENST00000669445.1:c.5A>C
ENST00000674765.1:c.628A>C ENSP00000501811.1:p.Ser210Arg
ENST00000675112.1:n.651A>C
ENST00000676254.1:n.1077A>C