Canonical Allele Identifier: CA318434
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207194
ClinVar RCV Id: RCV000189357
dbSNP Id: rs796053249
MyVariant Identifiers: chr1:g.43395424T>A (hg19) chr1:g.42929753T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929753T>A , CM000663.2:g.42929753T>A GRCh38
NC_000001.10:g.43395424T>A , CM000663.1:g.43395424T>A GRCh37
NC_000001.9:g.43168011T>A NCBI36
NG_008232.1:g.34424A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.707A>T MANE Select ENSP00000416293.2:p.Asp236Val
ENST00000669445.1:c.57-20A>T
ENST00000674765.1:c.707A>T ENSP00000501811.1:p.Asp236Val
ENST00000675112.1:n.730A>T
ENST00000676254.1:n.1156A>T
ENST00000426263.7:c.707A>T ENSP00000416293.2:p.Asp236Val
ENST00000439722.2:c.586A>T ENSP00000395521.2:n.586A>T
ENST00000475162.3:c.415+873A>T
ENST00000630287.2:c.*22A>T ENSP00000486694.1:n.*22A>T
NM_006516.2:c.707A>T NP_006507.2:p.Asp236Val
NM_006516.3:c.707A>T NP_006507.2:p.Asp236Val
NM_006516.4:c.707A>T MANE Select NP_006507.2:p.Asp236Val
Search 100 bp 5'
Search 100 bp 3'