Canonical Allele Identifier: CA019352
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198545
ClinVar RCV Id: RCV000179923 RCV001101942 RCV001079646 RCV001101941
dbSNP Id: rs55693364
ExAC: 1:43394947 C / A
gnomAD v2: 1-43394947-C-A
gnomAD v3: 1-42929276-C-A
gnomAD v4: 1-42929276-C-A
MyVariant Identifiers: chr1:g.43394947C>A (hg19) chr1:g.42929276C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929276C>A , CM000663.2:g.42929276C>A GRCh38
NC_000001.10:g.43394947C>A , CM000663.1:g.43394947C>A GRCh37
NC_000001.9:g.43167534C>A NCBI36
NG_008232.1:g.34901G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.906G>T MANE Select ENSP00000416293.2:p.Gly302=
ENST00000674545.1:n.224G>T
ENST00000674765.1:c.906G>T ENSP00000501811.1:p.Gly302=
ENST00000675112.1:n.1207G>T
ENST00000676254.1:n.1355G>T
ENST00000426263.7:c.906G>T ENSP00000416293.2:p.Gly302=
ENST00000439722.2:c.785G>T ENSP00000395521.2:n.785G>T
ENST00000475162.3:c.415+1350G>T
ENST00000630287.2:c.*221G>T ENSP00000486694.1:n.*221G>T
NM_006516.2:c.906G>T NP_006507.2:p.Gly302=
NM_006516.3:c.906G>T NP_006507.2:p.Gly302=
NM_006516.4:c.906G>T MANE Select NP_006507.2:p.Gly302=
Search 100 bp 5'
Search 100 bp 3'