Canonical Allele Identifier: CA339953730
Community Standard Title: NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp)
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927660C>T , CM000663.2:g.42927660C>T GRCh38
NC_000001.10:g.43393331C>T , CM000663.1:g.43393331C>T GRCh37
NC_000001.9:g.43165918C>T NCBI36
NG_008232.1:g.36517G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006516.4:c.1223G>A MANE Select NP_006507.2:p.Gly408Asp
ENST00000426263.10:c.1223G>A MANE Select ENSP00000416293.2:p.Gly408Asp
NM_006516.2:c.1223G>A NP_006507.2:p.Gly408Asp
NM_006516.3:c.1223G>A NP_006507.2:p.Gly408Asp
ENST00000426263.7:c.1223G>A ENSP00000416293.2:p.Gly408Asp
ENST00000475162.3:c.416-682G>A
ENST00000630287.2:c.*538G>A ENSP00000486694.1:n.*538G>A
ENST00000674545.1:n.1840G>A
ENST00000674765.1:c.1030-803G>A ENSP00000501811.1:n.1030-803G>A
ENST00000675112.1:n.1524G>A
ENST00000676254.1:n.1672G>A