Canonical Allele Identifier: CA21251626

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1028806534
• gnomAD v3: 1-42930183-T-C
• gnomAD v4: 1-42930183-T-C
• MyVariant Identifiers: chr1:g.43395854T>C (hg19) ; chr1:g.42930183T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930183T>C , CM000663.2:g.42930183T>C	GRCh38
NC_000001.10:g.43395854T>C , CM000663.1:g.43395854T>C	GRCh37
NC_000001.9:g.43168441T>C	NCBI36
NG_008232.1:g.33994A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-148A>G MANE Select	ENSP00000416293.2:n.517-148A>G
ENST00000674765.1:c.517-148A>G	ENSP00000501811.1:n.517-148A>G
ENST00000675112.1:n.540-148A>G
ENST00000676254.1:n.966-148A>G
ENST00000426263.7:c.517-148A>G	ENSP00000416293.2:n.517-148A>G
ENST00000439722.2:c.396-148A>G	ENSP00000395521.2:n.396-148A>G
ENST00000475162.3:c.415+443A>G
ENST00000630287.2:c.517-403A>G	ENSP00000486694.1:n.517-403A>G
NM_006516.2:c.517-148A>G	NP_006507.2:n.517-148A>G
NM_006516.3:c.517-148A>G	NP_006507.2:n.517-148A>G
NM_006516.4:c.517-148A>G MANE Select	NP_006507.2:n.517-148A>G