Canonical Allele Identifier: CA1001076581

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643455338
• gnomAD v3: 1-42928867-T-C
• gnomAD v4: 1-42928867-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42928867T>C , CM000663.2:g.42928867T>C	GRCh38
NC_000001.10:g.43394538T>C , CM000663.1:g.43394538T>C	GRCh37
NC_000001.9:g.43167125T>C	NCBI36
NG_008232.1:g.35310A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1074+65A>G MANE Select	ENSP00000416293.2:n.1074+65A>G
ENST00000674545.1:n.633A>G
ENST00000674765.1:c.1029+110A>G	ENSP00000501811.1:n.1029+110A>G
ENST00000675112.1:n.1375+65A>G
ENST00000676254.1:n.1523+65A>G
ENST00000426263.7:c.1074+65A>G	ENSP00000416293.2:n.1074+65A>G
ENST00000475162.3:c.415+1759A>G
ENST00000630287.2:c.*389+65A>G	ENSP00000486694.1:n.*389+65A>G
NM_006516.2:c.1074+65A>G	NP_006507.2:n.1074+65A>G
NM_006516.3:c.1074+65A>G	NP_006507.2:n.1074+65A>G
NM_006516.4:c.1074+65A>G MANE Select	NP_006507.2:n.1074+65A>G