Canonical Allele Identifier: CA417409002
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1264296
ClinVar RCV Id: RCV001667831 RCV002073168 RCV003446866 RCV003446862 RCV003446863 RCV003446864 RCV003446865
dbSNP Id: rs1643460439
gnomAD v3: 1-42929225-G-T
gnomAD v4: 1-42929225-G-T
MyVariant Identifiers: chr1:g.43394896G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929225G>T , CM000663.2:g.42929225G>T GRCh38
NC_000001.10:g.43394896G>T , CM000663.1:g.43394896G>T GRCh37
NC_000001.9:g.43167483G>T NCBI36
NG_008232.1:g.34952C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.957C>A MANE Select ENSP00000416293.2:p.Ala319=
ENST00000674545.1:n.275C>A
ENST00000674765.1:c.957C>A ENSP00000501811.1:p.Ala319=
ENST00000675112.1:n.1258C>A
ENST00000676254.1:n.1406C>A
ENST00000426263.7:c.957C>A ENSP00000416293.2:p.Ala319=
ENST00000439722.2:c.836C>A ENSP00000395521.2:n.836C>A
ENST00000475162.3:c.415+1401C>A
ENST00000630287.2:c.*272C>A ENSP00000486694.1:n.*272C>A
NM_006516.2:c.957C>A NP_006507.2:p.Ala319=
NM_006516.3:c.957C>A NP_006507.2:p.Ala319=
NM_006516.4:c.957C>A MANE Select NP_006507.2:p.Ala319=
Search 100 bp 5'
Search 100 bp 3'