Canonical Allele Identifier: CA417408977

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42929210-C-A
• MyVariant Identifiers: chr1:g.43394881C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929210C>A , CM000663.2:g.42929210C>A	GRCh38
NC_000001.10:g.43394881C>A , CM000663.1:g.43394881C>A	GRCh37
NC_000001.9:g.43167468C>A	NCBI36
NG_008232.1:g.34967G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.972G>T MANE Select	ENSP00000416293.2:p.Ser324=
ENST00000674545.1:n.290G>T
ENST00000674765.1:c.972G>T	ENSP00000501811.1:p.Ser324=
ENST00000675112.1:n.1273G>T
ENST00000676254.1:n.1421G>T
ENST00000426263.7:c.972G>T	ENSP00000416293.2:p.Ser324=
ENST00000439722.2:c.851G>T	ENSP00000395521.2:n.851G>T
ENST00000475162.3:c.415+1416G>T
ENST00000630287.2:c.*287G>T	ENSP00000486694.1:n.*287G>T
NM_006516.2:c.972G>T	NP_006507.2:p.Ser324=
NM_006516.3:c.972G>T	NP_006507.2:p.Ser324=
NM_006516.4:c.972G>T MANE Select	NP_006507.2:p.Ser324=