Canonical Allele Identifier: CA339957978

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395387A>T (hg19) ; chr1:g.42929716A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.744T>A MANE Select	ENSP00000416293.2:p.Ser248Arg
ENST00000669445.1:c.74T>A
ENST00000674765.1:c.744T>A	ENSP00000501811.1:p.Ser248Arg
ENST00000675112.1:n.767T>A
ENST00000676254.1:n.1193T>A
ENST00000426263.7:c.744T>A	ENSP00000416293.2:p.Ser248Arg
ENST00000439722.2:c.623T>A	ENSP00000395521.2:n.623T>A
ENST00000475162.3:c.415+910T>A
ENST00000630287.2:c.*59T>A	ENSP00000486694.1:n.*59T>A
NM_006516.2:c.744T>A	NP_006507.2:p.Ser248Arg
NM_006516.3:c.744T>A	NP_006507.2:p.Ser248Arg
NM_006516.4:c.744T>A MANE Select	NP_006507.2:p.Ser248Arg