Canonical Allele Identifier: CA1165412375

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929716A= , CM000663.2:g.42929716A=	GRCh38
NC_000001.10:g.43395387A= , CM000663.1:g.43395387A=	GRCh37
NC_000001.9:g.43167974A=	NCBI36
NG_008232.1:g.34461T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.744T= MANE Select	ENSP00000416293.2:p.Ser248=
ENST00000669445.1:c.74T=
ENST00000674765.1:c.744T=	ENSP00000501811.1:p.Ser248=
ENST00000675112.1:n.767T=
ENST00000676254.1:n.1193T=
ENST00000426263.7:c.744T=	ENSP00000416293.2:p.Ser248=
ENST00000439722.2:c.623T=	ENSP00000395521.2:n.623T=
ENST00000475162.3:c.415+910T=
ENST00000630287.2:c.*59T=	ENSP00000486694.1:n.*59T=
NM_006516.2:c.744T=	NP_006507.2:p.Ser248=
NM_006516.3:c.744T=	NP_006507.2:p.Ser248=
NM_006516.4:c.744T= MANE Select	NP_006507.2:p.Ser248=