Canonical Allele Identifier: CA1165412434

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929885G= , CM000663.2:g.42929885G=	GRCh38
NC_000001.10:g.43395556G= , CM000663.1:g.43395556G=	GRCh37
NC_000001.9:g.43168143G=	NCBI36
NG_008232.1:g.34292C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.667C= MANE Select	ENSP00000416293.2:p.Arg223=
ENST00000669445.1:c.44C=
ENST00000674765.1:c.667C=	ENSP00000501811.1:p.Arg223=
ENST00000675112.1:n.690C=
ENST00000676254.1:n.1116C=
ENST00000426263.7:c.667C=	ENSP00000416293.2:p.Arg223=
ENST00000439722.2:c.546C=	ENSP00000395521.2:n.546C=
ENST00000475162.3:c.415+741C=
ENST00000630287.2:c.517-105C=	ENSP00000486694.1:n.517-105C=
NM_006516.2:c.667C=	NP_006507.2:p.Arg223=
NM_006516.3:c.667C=	NP_006507.2:p.Arg223=
NM_006516.4:c.667C= MANE Select	NP_006507.2:p.Arg223=