Canonical Allele Identifier: CA019340

Gene: SLC2A1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929613G>A , CM000663.2:g.42929613G>A	GRCh38
NC_000001.10:g.43395284G>A , CM000663.1:g.43395284G>A	GRCh37
NC_000001.9:g.43167871G>A	NCBI36
NG_008232.1:g.34564C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.847C>T MANE Select	ENSP00000416293.2:p.Gln283Ter
ENST00000674765.1:c.847C>T	ENSP00000501811.1:p.Gln283Ter
ENST00000675112.1:n.870C>T
ENST00000676254.1:n.1296C>T
ENST00000426263.7:c.847C>T	ENSP00000416293.2:p.Gln283Ter
ENST00000439722.2:c.726C>T	ENSP00000395521.2:n.726C>T
ENST00000475162.3:c.415+1013C>T
ENST00000630287.2:c.*162C>T	ENSP00000486694.1:n.*162C>T
NM_006516.2:c.847C>T	NP_006507.2:p.Gln283Ter
NM_006516.3:c.847C>T	NP_006507.2:p.Gln283Ter
NM_006516.4:c.847C>T MANE Select	NP_006507.2:p.Gln283Ter