Canonical Allele Identifier: CA339960738
Gene: SLC2A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930717A>G , CM000663.2:g.42930717A>G GRCh38
NC_000001.10:g.43396388A>G , CM000663.1:g.43396388A>G GRCh37
NC_000001.9:g.43168975A>G NCBI36
NG_008232.1:g.33460T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.425T>C MANE Select ENSP00000416293.2:p.Met142Thr
ENST00000674765.1:c.425T>C ENSP00000501811.1:p.Met142Thr
ENST00000675112.1:n.448T>C
ENST00000676254.1:n.874T>C
ENST00000372500.4:c.329T>C ENSP00000361578.4:p.Met110Thr
ENST00000426263.7:c.425T>C ENSP00000416293.2:p.Met142Thr
ENST00000439722.2:c.304T>C ENSP00000395521.2:n.304T>C
ENST00000475162.3:c.324T>C
ENST00000625233.2:n.633T>C
ENST00000630287.2:c.425T>C ENSP00000486694.1:p.Met142Thr
NM_006516.2:c.425T>C NP_006507.2:p.Met142Thr
NM_006516.3:c.425T>C NP_006507.2:p.Met142Thr
NM_006516.4:c.425T>C MANE Select NP_006507.2:p.Met142Thr