Canonical Allele Identifier: CA019364
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16113
ClinVar RCV Id: RCV000017493 RCV000153967 RCV000473987 RCV001253635 RCV002288509
dbSNP Id: rs121909739
MyVariant Identifiers: chr1:g.43394913C>T (hg19) chr1:g.42929242C>T (hg38)
PubMed: PMID:18451999
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929242C>T , CM000663.2:g.42929242C>T GRCh38
NC_000001.10:g.43394913C>T , CM000663.1:g.43394913C>T GRCh37
NC_000001.9:g.43167500C>T NCBI36
NG_008232.1:g.34935G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.940G>A MANE Select ENSP00000416293.2:p.Gly314Ser
ENST00000674545.1:n.258G>A
ENST00000674765.1:c.940G>A ENSP00000501811.1:p.Gly314Ser
ENST00000675112.1:n.1241G>A
ENST00000676254.1:n.1389G>A
ENST00000426263.7:c.940G>A ENSP00000416293.2:p.Gly314Ser
ENST00000439722.2:c.819G>A ENSP00000395521.2:n.819G>A
ENST00000475162.3:c.415+1384G>A
ENST00000630287.2:c.*255G>A ENSP00000486694.1:n.*255G>A
NM_006516.2:c.940G>A NP_006507.2:p.Gly314Ser
NM_006516.3:c.940G>A NP_006507.2:p.Gly314Ser
NM_006516.4:c.940G>A MANE Select NP_006507.2:p.Gly314Ser
Search 100 bp 5'
Search 100 bp 3'