Canonical Allele Identifier: CA1165412199

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929282C= , CM000663.2:g.42929282C=	GRCh38
NC_000001.10:g.43394953C= , CM000663.1:g.43394953C=	GRCh37
NC_000001.9:g.43167540C=	NCBI36
NG_008232.1:g.34895G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.900G= MANE Select	ENSP00000416293.2:p.Lys300=
ENST00000674545.1:n.218G=
ENST00000674765.1:c.900G=	ENSP00000501811.1:p.Lys300=
ENST00000675112.1:n.1201G=
ENST00000676254.1:n.1349G=
ENST00000426263.7:c.900G=	ENSP00000416293.2:p.Lys300=
ENST00000439722.2:c.779G=	ENSP00000395521.2:n.779G=
ENST00000475162.3:c.415+1344G=
ENST00000630287.2:c.*215G=	ENSP00000486694.1:n.*215G=
NM_006516.2:c.900G=	NP_006507.2:p.Lys300=
NM_006516.3:c.900G=	NP_006507.2:p.Lys300=
NM_006516.4:c.900G= MANE Select	NP_006507.2:p.Lys300=