Canonical Allele Identifier: CA417543498

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395551G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929880G>T , CM000663.2:g.42929880G>T	GRCh38
NC_000001.10:g.43395551G>T , CM000663.1:g.43395551G>T	GRCh37
NC_000001.9:g.43168138G>T	NCBI36
NG_008232.1:g.34297C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.672C>A MANE Select	ENSP00000416293.2:p.Ala224=
ENST00000669445.1:c.49C>A
ENST00000674765.1:c.672C>A	ENSP00000501811.1:p.Ala224=
ENST00000675112.1:n.695C>A
ENST00000676254.1:n.1121C>A
ENST00000426263.7:c.672C>A	ENSP00000416293.2:p.Ala224=
ENST00000439722.2:c.551C>A	ENSP00000395521.2:n.551C>A
ENST00000475162.3:c.415+746C>A
ENST00000630287.2:c.517-100C>A	ENSP00000486694.1:n.517-100C>A
NM_006516.2:c.672C>A	NP_006507.2:p.Ala224=
NM_006516.3:c.672C>A	NP_006507.2:p.Ala224=
NM_006516.4:c.672C>A MANE Select	NP_006507.2:p.Ala224=