Canonical Allele Identifier: CA339960395

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930654-C-T
• MyVariant Identifiers: chr1:g.43396325C>T (hg19) ; chr1:g.42930654C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930654C>T , CM000663.2:g.42930654C>T	GRCh38
NC_000001.10:g.43396325C>T , CM000663.1:g.43396325C>T	GRCh37
NC_000001.9:g.43168912C>T	NCBI36
NG_008232.1:g.33523G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.488G>A MANE Select	ENSP00000416293.2:p.Gly163Asp
ENST00000674765.1:c.488G>A	ENSP00000501811.1:p.Gly163Asp
ENST00000675112.1:n.511G>A
ENST00000676254.1:n.937G>A
ENST00000426263.7:c.488G>A	ENSP00000416293.2:p.Gly163Asp
ENST00000439722.2:c.367G>A	ENSP00000395521.2:n.367G>A
ENST00000475162.3:c.387G>A
ENST00000625233.2:n.696G>A
ENST00000630287.2:c.488G>A	ENSP00000486694.1:p.Gly163Asp
NM_006516.2:c.488G>A	NP_006507.2:p.Gly163Asp
NM_006516.3:c.488G>A	NP_006507.2:p.Gly163Asp
NM_006516.4:c.488G>A MANE Select	NP_006507.2:p.Gly163Asp