Canonical Allele Identifier: CA803564

Gene: SLC2A1

Linked Data

• dbSNP Id: rs781571701
• ExAC: 1:43396514 T / C
• gnomAD v2: 1-43396514-T-C
• gnomAD v4: 1-42930843-T-C
• MyVariant Identifiers: chr1:g.43396514T>C (hg19) ; chr1:g.42930843T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930843T>C , CM000663.2:g.42930843T>C	GRCh38
NC_000001.10:g.43396514T>C , CM000663.1:g.43396514T>C	GRCh37
NC_000001.9:g.43169101T>C	NCBI36
NG_008232.1:g.33334A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.299A>G MANE Select	ENSP00000416293.2:p.Asn100Ser
ENST00000674765.1:c.299A>G	ENSP00000501811.1:p.Asn100Ser
ENST00000675112.1:n.322A>G
ENST00000676254.1:n.748A>G
ENST00000372500.4:c.203A>G	ENSP00000361578.4:p.Asn68Ser
ENST00000426263.7:c.299A>G	ENSP00000416293.2:p.Asn100Ser
ENST00000439722.2:c.178A>G	ENSP00000395521.2:n.178A>G
ENST00000475162.3:c.198A>G
ENST00000625233.2:n.507A>G
ENST00000630287.2:c.299A>G	ENSP00000486694.1:p.Asn100Ser
NM_006516.2:c.299A>G	NP_006507.2:p.Asn100Ser
NM_006516.3:c.299A>G	NP_006507.2:p.Asn100Ser
NM_006516.4:c.299A>G MANE Select	NP_006507.2:p.Asn100Ser