Canonical Allele Identifier: CA803345

Gene: SLC2A1

Linked Data

• dbSNP Id: rs769143064
• ExAC: 1:43393519 T / C
• gnomAD v2: 1-43393519-T-C
• gnomAD v4: 1-42927848-T-C
• MyVariant Identifiers: chr1:g.43393519T>C (hg19) ; chr1:g.42927848T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927848T>C , CM000663.2:g.42927848T>C	GRCh38
NC_000001.10:g.43393519T>C , CM000663.1:g.43393519T>C	GRCh37
NC_000001.9:g.43166106T>C	NCBI36
NG_008232.1:g.36329A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1075-40A>G MANE Select	ENSP00000416293.2:n.1075-40A>G
ENST00000674545.1:n.1652A>G
ENST00000674765.1:c.1030-991A>G	ENSP00000501811.1:n.1030-991A>G
ENST00000675112.1:n.1376-40A>G
ENST00000676254.1:n.1524-40A>G
ENST00000426263.7:c.1075-40A>G	ENSP00000416293.2:n.1075-40A>G
ENST00000475162.3:c.416-870A>G
ENST00000630287.2:c.*390-40A>G	ENSP00000486694.1:n.*390-40A>G
NM_006516.2:c.1075-40A>G	NP_006507.2:n.1075-40A>G
NM_006516.3:c.1075-40A>G	NP_006507.2:n.1075-40A>G
NM_006516.4:c.1075-40A>G MANE Select	NP_006507.2:n.1075-40A>G