Canonical Allele Identifier: CA339964871

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1288030829
• gnomAD v2: 1-43408967-G-T
• MyVariant Identifiers: chr1:g.43408967G>T (hg19) ; chr1:g.42943296G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943296G>T , CM000663.2:g.42943296G>T	GRCh38
NC_000001.10:g.43408967G>T , CM000663.1:g.43408967G>T	GRCh37
NC_000001.9:g.43181554G>T	NCBI36
NG_008232.1:g.20881C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.44C>A MANE Select	ENSP00000416293.2:p.Ala15Asp
ENST00000674765.1:c.44C>A	ENSP00000501811.1:p.Ala15Asp
ENST00000675112.1:n.67C>A
ENST00000372500.4:c.19-12090C>A	ENSP00000361578.4:n.19-12090C>A
ENST00000415851.6:n.261C>A
ENST00000426263.7:c.44C>A	ENSP00000416293.2:p.Ala15Asp
ENST00000625233.2:n.252C>A
ENST00000628173.1:n.263C>A
ENST00000630287.2:c.44C>A	ENSP00000486694.1:p.Ala15Asp
ENST00000630821.1:n.261C>A
NM_006516.2:c.44C>A	NP_006507.2:p.Ala15Asp
NM_006516.3:c.44C>A	NP_006507.2:p.Ala15Asp
NM_006516.4:c.44C>A MANE Select	NP_006507.2:p.Ala15Asp