Canonical Allele Identifier: CA735971239

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1454051928
• gnomAD v4: 1-42930247-A-T
• MyVariant Identifiers: chr1:g.43395918A>T (hg19) ; chr1:g.42930247A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930247A>T , CM000663.2:g.42930247A>T	GRCh38
NC_000001.10:g.43395918A>T , CM000663.1:g.43395918A>T	GRCh37
NC_000001.9:g.43168505A>T	NCBI36
NG_008232.1:g.33930T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-212T>A MANE Select	ENSP00000416293.2:n.517-212T>A
ENST00000674765.1:c.517-212T>A	ENSP00000501811.1:n.517-212T>A
ENST00000675112.1:n.540-212T>A
ENST00000676254.1:n.966-212T>A
ENST00000426263.7:c.517-212T>A	ENSP00000416293.2:n.517-212T>A
ENST00000439722.2:c.396-212T>A	ENSP00000395521.2:n.396-212T>A
ENST00000475162.3:c.415+379T>A
ENST00000630287.2:c.516+379T>A	ENSP00000486694.1:n.516+379T>A
NM_006516.2:c.517-212T>A	NP_006507.2:n.517-212T>A
NM_006516.3:c.517-212T>A	NP_006507.2:n.517-212T>A
NM_006516.4:c.517-212T>A MANE Select	NP_006507.2:n.517-212T>A