Canonical Allele Identifier: CA1001076913

Gene: SLC2A1

Linked Data

• dbSNP Id: rs2124448788
• gnomAD v3: 1-42929572-A-T
• gnomAD v4: 1-42929572-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929572A>T , CM000663.2:g.42929572A>T	GRCh38
NC_000001.10:g.43395243A>T , CM000663.1:g.43395243A>T	GRCh37
NC_000001.9:g.43167830A>T	NCBI36
NG_008232.1:g.34605T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.867+21T>A MANE Select	ENSP00000416293.2:n.867+21T>A
ENST00000674765.1:c.867+21T>A	ENSP00000501811.1:n.867+21T>A
ENST00000675112.1:n.911T>A
ENST00000676254.1:n.1316+21T>A
ENST00000426263.7:c.867+21T>A	ENSP00000416293.2:n.867+21T>A
ENST00000439722.2:c.746+21T>A	ENSP00000395521.2:n.746+21T>A
ENST00000475162.3:c.415+1054T>A
ENST00000630287.2:c.*182+21T>A	ENSP00000486694.1:n.*182+21T>A
NM_006516.2:c.867+21T>A	NP_006507.2:n.867+21T>A
NM_006516.3:c.867+21T>A	NP_006507.2:n.867+21T>A
NM_006516.4:c.867+21T>A MANE Select	NP_006507.2:n.867+21T>A