Canonical Allele Identifier: CA1001077257

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643477860
• gnomAD v3: 1-42930576-A-C
• gnomAD v4: 1-42930576-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930576A>C , CM000663.2:g.42930576A>C	GRCh38
NC_000001.10:g.43396247A>C , CM000663.1:g.43396247A>C	GRCh37
NC_000001.9:g.43168834A>C	NCBI36
NG_008232.1:g.33601T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.516+50T>G MANE Select	ENSP00000416293.2:n.516+50T>G
ENST00000674765.1:c.516+50T>G	ENSP00000501811.1:n.516+50T>G
ENST00000675112.1:n.539+50T>G
ENST00000676254.1:n.965+50T>G
ENST00000426263.7:c.516+50T>G	ENSP00000416293.2:n.516+50T>G
ENST00000439722.2:c.395+50T>G	ENSP00000395521.2:n.395+50T>G
ENST00000475162.3:c.415+50T>G
ENST00000625233.2:n.774T>G
ENST00000630287.2:c.516+50T>G	ENSP00000486694.1:n.516+50T>G
NM_006516.2:c.516+50T>G	NP_006507.2:n.516+50T>G
NM_006516.3:c.516+50T>G	NP_006507.2:n.516+50T>G
NM_006516.4:c.516+50T>G MANE Select	NP_006507.2:n.516+50T>G