Canonical Allele Identifier: CA339956913

Gene: SLC2A1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929298G>T , CM000663.2:g.42929298G>T	GRCh38
NC_000001.10:g.43394969G>T , CM000663.1:g.43394969G>T	GRCh37
NC_000001.9:g.43167556G>T	NCBI36
NG_008232.1:g.34879C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.884C>A MANE Select	ENSP00000416293.2:p.Thr295Lys
ENST00000674545.1:n.202C>A
ENST00000674765.1:c.884C>A	ENSP00000501811.1:p.Thr295Lys
ENST00000675112.1:n.1185C>A
ENST00000676254.1:n.1333C>A
ENST00000426263.7:c.884C>A	ENSP00000416293.2:p.Thr295Lys
ENST00000439722.2:c.763C>A	ENSP00000395521.2:n.763C>A
ENST00000475162.3:c.415+1328C>A
ENST00000630287.2:c.*199C>A	ENSP00000486694.1:n.*199C>A
NM_006516.2:c.884C>A	NP_006507.2:p.Thr295Lys
NM_006516.3:c.884C>A	NP_006507.2:p.Thr295Lys
NM_006516.4:c.884C>A MANE Select	NP_006507.2:p.Thr295Lys