Canonical Allele Identifier: CA417543735

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930704-T-C
• MyVariant Identifiers: chr1:g.43396375T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930704T>C , CM000663.2:g.42930704T>C	GRCh38
NC_000001.10:g.43396375T>C , CM000663.1:g.43396375T>C	GRCh37
NC_000001.9:g.43168962T>C	NCBI36
NG_008232.1:g.33473A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.438A>G MANE Select	ENSP00000416293.2:p.Glu146=
ENST00000674765.1:c.438A>G	ENSP00000501811.1:p.Glu146=
ENST00000675112.1:n.461A>G
ENST00000676254.1:n.887A>G
ENST00000372500.4:c.342A>G	ENSP00000361578.4:p.Glu114=
ENST00000426263.7:c.438A>G	ENSP00000416293.2:p.Glu146=
ENST00000439722.2:c.317A>G	ENSP00000395521.2:n.317A>G
ENST00000475162.3:c.337A>G
ENST00000625233.2:n.646A>G
ENST00000630287.2:c.438A>G	ENSP00000486694.1:p.Glu146=
NM_006516.2:c.438A>G	NP_006507.2:p.Glu146=
NM_006516.3:c.438A>G	NP_006507.2:p.Glu146=
NM_006516.4:c.438A>G MANE Select	NP_006507.2:p.Glu146=