Canonical Allele Identifier: CA417409609

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2763921
• ClinVar RCV Id: RCV003517651
• dbSNP Id: rs1643479030
• gnomAD v3: 1-42930662-G-A
• gnomAD v4: 1-42930662-G-A
• MyVariant Identifiers: chr1:g.43396333G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930662G>A , CM000663.2:g.42930662G>A	GRCh38
NC_000001.10:g.43396333G>A , CM000663.1:g.43396333G>A	GRCh37
NC_000001.9:g.43168920G>A	NCBI36
NG_008232.1:g.33515C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.480C>T MANE Select	ENSP00000416293.2:p.His160=
ENST00000674765.1:c.480C>T	ENSP00000501811.1:p.His160=
ENST00000675112.1:n.503C>T
ENST00000676254.1:n.929C>T
ENST00000426263.7:c.480C>T	ENSP00000416293.2:p.His160=
ENST00000439722.2:c.359C>T	ENSP00000395521.2:n.359C>T
ENST00000475162.3:c.379C>T
ENST00000625233.2:n.688C>T
ENST00000630287.2:c.480C>T	ENSP00000486694.1:p.His160=
NM_006516.2:c.480C>T	NP_006507.2:p.His160=
NM_006516.3:c.480C>T	NP_006507.2:p.His160=
NM_006516.4:c.480C>T MANE Select	NP_006507.2:p.His160=