Canonical Allele Identifier: CA803483

Gene: SLC2A1

Linked Data

• dbSNP Id: rs767600686
• ExAC: 1:43395553 C / T
• gnomAD v2: 1-43395553-C-T
• MyVariant Identifiers: chr1:g.43395553C>T (hg19) ; chr1:g.42929882C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929882C>T , CM000663.2:g.42929882C>T	GRCh38
NC_000001.10:g.43395553C>T , CM000663.1:g.43395553C>T	GRCh37
NC_000001.9:g.43168140C>T	NCBI36
NG_008232.1:g.34295G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.670G>A MANE Select	ENSP00000416293.2:p.Ala224Thr
ENST00000669445.1:c.47G>A
ENST00000674765.1:c.670G>A	ENSP00000501811.1:p.Ala224Thr
ENST00000675112.1:n.693G>A
ENST00000676254.1:n.1119G>A
ENST00000426263.7:c.670G>A	ENSP00000416293.2:p.Ala224Thr
ENST00000439722.2:c.549G>A	ENSP00000395521.2:n.549G>A
ENST00000475162.3:c.415+744G>A
ENST00000630287.2:c.517-102G>A	ENSP00000486694.1:n.517-102G>A
NM_006516.2:c.670G>A	NP_006507.2:p.Ala224Thr
NM_006516.3:c.670G>A	NP_006507.2:p.Ala224Thr
NM_006516.4:c.670G>A MANE Select	NP_006507.2:p.Ala224Thr