Canonical Allele Identifier: CA339958218

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395428C>T (hg19) ; chr1:g.42929757C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929757C>T , CM000663.2:g.42929757C>T	GRCh38
NC_000001.10:g.43395428C>T , CM000663.1:g.43395428C>T	GRCh37
NC_000001.9:g.43168015C>T	NCBI36
NG_008232.1:g.34420G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.703G>A MANE Select	ENSP00000416293.2:p.Ala235Thr
ENST00000669445.1:c.57-24G>A
ENST00000674765.1:c.703G>A	ENSP00000501811.1:p.Ala235Thr
ENST00000675112.1:n.726G>A
ENST00000676254.1:n.1152G>A
ENST00000426263.7:c.703G>A	ENSP00000416293.2:p.Ala235Thr
ENST00000439722.2:c.582G>A	ENSP00000395521.2:n.582G>A
ENST00000475162.3:c.415+869G>A
ENST00000630287.2:c.*18G>A	ENSP00000486694.1:n.*18G>A
NM_006516.2:c.703G>A	NP_006507.2:p.Ala235Thr
NM_006516.3:c.703G>A	NP_006507.2:p.Ala235Thr
NM_006516.4:c.703G>A MANE Select	NP_006507.2:p.Ala235Thr