Canonical Allele Identifier: CA2596813329

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643458960
• gnomAD v3: 1-42929137-A-C
• gnomAD v4: 1-42929137-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929137A>C , CM000663.2:g.42929137A>C	GRCh38
NC_000001.10:g.43394808A>C , CM000663.1:g.43394808A>C	GRCh37
NC_000001.9:g.43167395A>C	NCBI36
NG_008232.1:g.35040T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.972+73T>G MANE Select	ENSP00000416293.2:n.972+73T>G
ENST00000674545.1:n.363T>G
ENST00000674765.1:c.972+73T>G	ENSP00000501811.1:n.972+73T>G
ENST00000675112.1:n.1273+73T>G
ENST00000676254.1:n.1421+73T>G
ENST00000426263.7:c.972+73T>G	ENSP00000416293.2:n.972+73T>G
ENST00000439722.2:c.851+73T>G	ENSP00000395521.2:n.851+73T>G
ENST00000475162.3:c.415+1489T>G
ENST00000630287.2:c.*287+73T>G	ENSP00000486694.1:n.*287+73T>G
NM_006516.2:c.972+73T>G	NP_006507.2:n.972+73T>G
NM_006516.3:c.972+73T>G	NP_006507.2:n.972+73T>G
NM_006516.4:c.972+73T>G MANE Select	NP_006507.2:n.972+73T>G