Canonical Allele Identifier: CA318448
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207201
ClinVar RCV Id: RCV000189366 RCV000458906 RCV001781556
dbSNP Id: rs796053253
gnomAD v4: 1-42929211-G-A
MyVariant Identifiers: chr1:g.43394882G>A (hg19) chr1:g.42929211G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929211G>A , CM000663.2:g.42929211G>A GRCh38
NC_000001.10:g.43394882G>A , CM000663.1:g.43394882G>A GRCh37
NC_000001.9:g.43167469G>A NCBI36
NG_008232.1:g.34966C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.971C>T MANE Select ENSP00000416293.2:p.Ser324Leu
ENST00000674545.1:n.289C>T
ENST00000674765.1:c.971C>T ENSP00000501811.1:p.Ser324Leu
ENST00000675112.1:n.1272C>T
ENST00000676254.1:n.1420C>T
ENST00000426263.7:c.971C>T ENSP00000416293.2:p.Ser324Leu
ENST00000439722.2:c.850C>T ENSP00000395521.2:n.850C>T
ENST00000475162.3:c.415+1415C>T
ENST00000630287.2:c.*286C>T ENSP00000486694.1:n.*286C>T
NM_006516.2:c.971C>T NP_006507.2:p.Ser324Leu
NM_006516.3:c.971C>T NP_006507.2:p.Ser324Leu
NM_006516.4:c.971C>T MANE Select NP_006507.2:p.Ser324Leu
Search 100 bp 5'
Search 100 bp 3'