Canonical Allele Identifier: CA803549
Community Standard Title: NM_006516.4(SLC2A1):c.374G>C (p.Gly125Ala)
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930768C>G , CM000663.2:g.42930768C>G GRCh38
NC_000001.10:g.43396439C>G , CM000663.1:g.43396439C>G GRCh37
NC_000001.9:g.43169026C>G NCBI36
NG_008232.1:g.33409G>C

Transcript Alleles

HGVS Amino-acid Change
NM_006516.4:c.374G>C MANE Select NP_006507.2:p.Gly125Ala
ENST00000426263.10:c.374G>C MANE Select ENSP00000416293.2:p.Gly125Ala
NM_006516.2:c.374G>C NP_006507.2:p.Gly125Ala
NM_006516.3:c.374G>C NP_006507.2:p.Gly125Ala
ENST00000372500.4:c.278G>C ENSP00000361578.4:p.Gly93Ala
ENST00000426263.7:c.374G>C ENSP00000416293.2:p.Gly125Ala
ENST00000439722.2:c.253G>C ENSP00000395521.2:n.253G>C
ENST00000475162.3:c.273G>C
ENST00000625233.2:n.582G>C
ENST00000630287.2:c.374G>C ENSP00000486694.1:p.Gly125Ala
ENST00000674765.1:c.374G>C ENSP00000501811.1:p.Gly125Ala
ENST00000675112.1:n.397G>C
ENST00000676254.1:n.823G>C