Canonical Allele Identifier: CA2573132296

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1577744
• ClinVar RCV Id: RCV002081126
• dbSNP Id: rs1024915770

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929045G>A , CM000663.2:g.42929045G>A	GRCh38
NC_000001.10:g.43394716G>A , CM000663.1:g.43394716G>A	GRCh37
NC_000001.9:g.43167303G>A	NCBI36
NG_008232.1:g.35132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.973-12C>T MANE Select	ENSP00000416293.2:n.973-12C>T
ENST00000674545.1:n.455C>T
ENST00000674765.1:c.973-12C>T	ENSP00000501811.1:n.973-12C>T
ENST00000675112.1:n.1274-12C>T
ENST00000676254.1:n.1422-12C>T
ENST00000426263.7:c.973-12C>T	ENSP00000416293.2:n.973-12C>T
ENST00000439722.2:c.852-12C>T	ENSP00000395521.2:n.852-12C>T
ENST00000475162.3:c.415+1581C>T
ENST00000630287.2:c.*288-12C>T	ENSP00000486694.1:n.*288-12C>T
NM_006516.2:c.973-12C>T	NP_006507.2:n.973-12C>T
NM_006516.3:c.973-12C>T	NP_006507.2:n.973-12C>T
NM_006516.4:c.973-12C>T MANE Select	NP_006507.2:n.973-12C>T