Canonical Allele Identifier: CA339957994

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395389T>G (hg19) ; chr1:g.42929718T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929718T>G , CM000663.2:g.42929718T>G	GRCh38
NC_000001.10:g.43395389T>G , CM000663.1:g.43395389T>G	GRCh37
NC_000001.9:g.43167976T>G	NCBI36
NG_008232.1:g.34459A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.742A>C MANE Select	ENSP00000416293.2:p.Ser248Arg
ENST00000669445.1:c.72A>C
ENST00000674765.1:c.742A>C	ENSP00000501811.1:p.Ser248Arg
ENST00000675112.1:n.765A>C
ENST00000676254.1:n.1191A>C
ENST00000426263.7:c.742A>C	ENSP00000416293.2:p.Ser248Arg
ENST00000439722.2:c.621A>C	ENSP00000395521.2:n.621A>C
ENST00000475162.3:c.415+908A>C
ENST00000630287.2:c.*57A>C	ENSP00000486694.1:n.*57A>C
NM_006516.2:c.742A>C	NP_006507.2:p.Ser248Arg
NM_006516.3:c.742A>C	NP_006507.2:p.Ser248Arg
NM_006516.4:c.742A>C MANE Select	NP_006507.2:p.Ser248Arg