Canonical Allele Identifier: CA019042

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927224G>A , CM000663.2:g.42927224G>A	GRCh38
NC_000001.10:g.43392895G>A , CM000663.1:g.43392895G>A	GRCh37
NC_000001.9:g.43165482G>A	NCBI36
NG_008232.1:g.36953C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.1296C>T MANE Select	NP_006507.2:p.Tyr432=
ENST00000426263.10:c.1296C>T MANE Select	ENSP00000416293.2:p.Tyr432=
NM_006516.2:c.1296C>T	NP_006507.2:p.Tyr432=
NM_006516.3:c.1296C>T	NP_006507.2:p.Tyr432=
ENST00000426263.7:c.1296C>T	ENSP00000416293.2:p.Tyr432=
ENST00000475162.3:c.416-246C>T
ENST00000630287.2:c.*611C>T	ENSP00000486694.1:n.*611C>T
ENST00000674545.1:n.1913C>T
ENST00000674765.1:c.1030-367C>T	ENSP00000501811.1:n.1030-367C>T
ENST00000675112.1:n.1597C>T
ENST00000676254.1:n.1745C>T