Canonical Allele Identifier: CA339958075

Gene: SLC2A1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929729A>G , CM000663.2:g.42929729A>G	GRCh38
NC_000001.10:g.43395400A>G , CM000663.1:g.43395400A>G	GRCh37
NC_000001.9:g.43167987A>G	NCBI36
NG_008232.1:g.34448T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.731T>C MANE Select	ENSP00000416293.2:p.Met244Thr
ENST00000669445.1:c.61T>C
ENST00000674765.1:c.731T>C	ENSP00000501811.1:p.Met244Thr
ENST00000675112.1:n.754T>C
ENST00000676254.1:n.1180T>C
ENST00000426263.7:c.731T>C	ENSP00000416293.2:p.Met244Thr
ENST00000439722.2:c.610T>C	ENSP00000395521.2:n.610T>C
ENST00000475162.3:c.415+897T>C
ENST00000630287.2:c.*46T>C	ENSP00000486694.1:n.*46T>C
NM_006516.2:c.731T>C	NP_006507.2:p.Met244Thr
NM_006516.3:c.731T>C	NP_006507.2:p.Met244Thr
NM_006516.4:c.731T>C MANE Select	NP_006507.2:p.Met244Thr