Canonical Allele Identifier: CA803404
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 516467
ClinVar RCV Id: RCV000904143 RCV001704788 RCV004547752 RCV003224350
dbSNP Id: rs776461617
ExAC: 1:43394950 C / T
gnomAD v2: 1-43394950-C-T
gnomAD v3: 1-42929279-C-T
gnomAD v4: 1-42929279-C-T
MyVariant Identifiers: chr1:g.43394950C>T (hg19) chr1:g.42929279C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929279C>T , CM000663.2:g.42929279C>T GRCh38
NC_000001.10:g.43394950C>T , CM000663.1:g.43394950C>T GRCh37
NC_000001.9:g.43167537C>T NCBI36
NG_008232.1:g.34898G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.903G>A MANE Select ENSP00000416293.2:p.Ala301=
ENST00000674545.1:n.221G>A
ENST00000674765.1:c.903G>A ENSP00000501811.1:p.Ala301=
ENST00000675112.1:n.1204G>A
ENST00000676254.1:n.1352G>A
ENST00000426263.7:c.903G>A ENSP00000416293.2:p.Ala301=
ENST00000439722.2:c.782G>A ENSP00000395521.2:n.782G>A
ENST00000475162.3:c.415+1347G>A
ENST00000630287.2:c.*218G>A ENSP00000486694.1:n.*218G>A
NM_006516.2:c.903G>A NP_006507.2:p.Ala301=
NM_006516.3:c.903G>A NP_006507.2:p.Ala301=
NM_006516.4:c.903G>A MANE Select NP_006507.2:p.Ala301=
Search 100 bp 5'
Search 100 bp 3'