Canonical Allele Identifier: CA1001077246

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643477344
• gnomAD v3: 1-42930535-G-A
• gnomAD v4: 1-42930535-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930535G>A , CM000663.2:g.42930535G>A	GRCh38
NC_000001.10:g.43396206G>A , CM000663.1:g.43396206G>A	GRCh37
NC_000001.9:g.43168793G>A	NCBI36
NG_008232.1:g.33642C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.516+91C>T MANE Select	ENSP00000416293.2:n.516+91C>T
ENST00000674765.1:c.516+91C>T	ENSP00000501811.1:n.516+91C>T
ENST00000675112.1:n.539+91C>T
ENST00000676254.1:n.965+91C>T
ENST00000426263.7:c.516+91C>T	ENSP00000416293.2:n.516+91C>T
ENST00000439722.2:c.395+91C>T	ENSP00000395521.2:n.395+91C>T
ENST00000475162.3:c.415+91C>T
ENST00000625233.2:n.815C>T
ENST00000630287.2:c.516+91C>T	ENSP00000486694.1:n.516+91C>T
NM_006516.2:c.516+91C>T	NP_006507.2:n.516+91C>T
NM_006516.3:c.516+91C>T	NP_006507.2:n.516+91C>T
NM_006516.4:c.516+91C>T MANE Select	NP_006507.2:n.516+91C>T