Canonical Allele Identifier: CA803400
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 444164
ClinVar RCV Id: RCV000513651 RCV001230574 RCV003446110 RCV003446112 RCV003446113 RCV003446109 RCV003446111
dbSNP Id: rs746091725
ExAC: 1:43394900 G / A
gnomAD v2: 1-43394900-G-A
gnomAD v3: 1-42929229-G-A
gnomAD v4: 1-42929229-G-A
MyVariant Identifiers: chr1:g.43394900G>A (hg19) chr1:g.42929229G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929229G>A , CM000663.2:g.42929229G>A GRCh38
NC_000001.10:g.43394900G>A , CM000663.1:g.43394900G>A GRCh37
NC_000001.9:g.43167487G>A NCBI36
NG_008232.1:g.34948C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.953C>T MANE Select ENSP00000416293.2:p.Thr318Met
ENST00000674545.1:n.271C>T
ENST00000674765.1:c.953C>T ENSP00000501811.1:p.Thr318Met
ENST00000675112.1:n.1254C>T
ENST00000676254.1:n.1402C>T
ENST00000426263.7:c.953C>T ENSP00000416293.2:p.Thr318Met
ENST00000439722.2:c.832C>T ENSP00000395521.2:n.832C>T
ENST00000475162.3:c.415+1397C>T
ENST00000630287.2:c.*268C>T ENSP00000486694.1:n.*268C>T
NM_006516.2:c.953C>T NP_006507.2:p.Thr318Met
NM_006516.3:c.953C>T NP_006507.2:p.Thr318Met
NM_006516.4:c.953C>T MANE Select NP_006507.2:p.Thr318Met
Search 100 bp 5'
Search 100 bp 3'