Canonical Allele Identifier: CA1001077198

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643475144
• gnomAD v3: 1-42930331-A-G
• gnomAD v4: 1-42930331-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930331A>G , CM000663.2:g.42930331A>G	GRCh38
NC_000001.10:g.43396002A>G , CM000663.1:g.43396002A>G	GRCh37
NC_000001.9:g.43168589A>G	NCBI36
NG_008232.1:g.33846T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-296T>C MANE Select	ENSP00000416293.2:n.517-296T>C
ENST00000674765.1:c.517-296T>C	ENSP00000501811.1:n.517-296T>C
ENST00000675112.1:n.540-296T>C
ENST00000676254.1:n.966-296T>C
ENST00000426263.7:c.517-296T>C	ENSP00000416293.2:n.517-296T>C
ENST00000439722.2:c.396-296T>C	ENSP00000395521.2:n.396-296T>C
ENST00000475162.3:c.415+295T>C
ENST00000625233.2:n.1019T>C
ENST00000630287.2:c.516+295T>C	ENSP00000486694.1:n.516+295T>C
NM_006516.2:c.517-296T>C	NP_006507.2:n.517-296T>C
NM_006516.3:c.517-296T>C	NP_006507.2:n.517-296T>C
NM_006516.4:c.517-296T>C MANE Select	NP_006507.2:n.517-296T>C