Canonical Allele Identifier: CA803597

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42931133G>A , CM000663.2:g.42931133G>A	GRCh38
NC_000001.10:g.43396804G>A , CM000663.1:g.43396804G>A	GRCh37
NC_000001.9:g.43169391G>A	NCBI36
NG_008232.1:g.33044C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.188C>T MANE Select	NP_006507.2:p.Thr63Met
ENST00000426263.10:c.188C>T MANE Select	ENSP00000416293.2:p.Thr63Met
NM_006516.2:c.188C>T	NP_006507.2:p.Thr63Met
NM_006516.3:c.188C>T	NP_006507.2:p.Thr63Met
ENST00000372500.4:c.92C>T	ENSP00000361578.4:p.Thr31Met
ENST00000415851.6:n.405C>T
ENST00000426263.7:c.188C>T	ENSP00000416293.2:p.Thr63Met
ENST00000475162.3:c.87C>T
ENST00000625233.2:n.396C>T
ENST00000630287.2:c.188C>T	ENSP00000486694.1:p.Thr63Met
ENST00000674765.1:c.188C>T	ENSP00000501811.1:p.Thr63Met
ENST00000675112.1:n.211C>T
ENST00000676254.1:n.637C>T