Canonical Allele Identifier: CA339952204

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43392723A>C (hg19) ; chr1:g.42927052A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927052A>C , CM000663.2:g.42927052A>C	GRCh38
NC_000001.10:g.43392723A>C , CM000663.1:g.43392723A>C	GRCh37
NC_000001.9:g.43165310A>C	NCBI36
NG_008232.1:g.37125T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1468T>G MANE Select	ENSP00000416293.2:p.Ser490Ala
ENST00000674545.1:n.2085T>G
ENST00000674765.1:c.1030-195T>G	ENSP00000501811.1:n.1030-195T>G
ENST00000675112.1:n.1769T>G
ENST00000676254.1:n.1917T>G
ENST00000426263.7:c.1468T>G	ENSP00000416293.2:p.Ser490Ala
ENST00000475162.3:c.416-74T>G
ENST00000630287.2:c.*783T>G	ENSP00000486694.1:n.*783T>G
NM_006516.2:c.1468T>G	NP_006507.2:p.Ser490Ala
NM_006516.3:c.1468T>G	NP_006507.2:p.Ser490Ala
NM_006516.4:c.1468T>G MANE Select	NP_006507.2:p.Ser490Ala