Canonical Allele Identifier: CA1001076906

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643464922
• gnomAD v3: 1-42929569-G-A
• gnomAD v4: 1-42929569-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929569G>A , CM000663.2:g.42929569G>A	GRCh38
NC_000001.10:g.43395240G>A , CM000663.1:g.43395240G>A	GRCh37
NC_000001.9:g.43167827G>A	NCBI36
NG_008232.1:g.34608C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.867+24C>T MANE Select	ENSP00000416293.2:n.867+24C>T
ENST00000674765.1:c.867+24C>T	ENSP00000501811.1:n.867+24C>T
ENST00000675112.1:n.914C>T
ENST00000676254.1:n.1316+24C>T
ENST00000426263.7:c.867+24C>T	ENSP00000416293.2:n.867+24C>T
ENST00000439722.2:c.746+24C>T	ENSP00000395521.2:n.746+24C>T
ENST00000475162.3:c.415+1057C>T
ENST00000630287.2:c.*182+24C>T	ENSP00000486694.1:n.*182+24C>T
NM_006516.2:c.867+24C>T	NP_006507.2:n.867+24C>T
NM_006516.3:c.867+24C>T	NP_006507.2:n.867+24C>T
NM_006516.4:c.867+24C>T MANE Select	NP_006507.2:n.867+24C>T