Canonical Allele Identifier: CA339953690

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43393316G>C (hg19) ; chr1:g.42927645G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927645G>C , CM000663.2:g.42927645G>C	GRCh38
NC_000001.10:g.43393316G>C , CM000663.1:g.43393316G>C	GRCh37
NC_000001.9:g.43165903G>C	NCBI36
NG_008232.1:g.36532C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1238C>G MANE Select	ENSP00000416293.2:p.Thr413Ser
ENST00000674545.1:n.1855C>G
ENST00000674765.1:c.1030-788C>G	ENSP00000501811.1:n.1030-788C>G
ENST00000675112.1:n.1539C>G
ENST00000676254.1:n.1687C>G
ENST00000426263.7:c.1238C>G	ENSP00000416293.2:p.Thr413Ser
ENST00000475162.3:c.416-667C>G
ENST00000630287.2:c.*553C>G	ENSP00000486694.1:n.*553C>G
NM_006516.2:c.1238C>G	NP_006507.2:p.Thr413Ser
NM_006516.3:c.1238C>G	NP_006507.2:p.Thr413Ser
NM_006516.4:c.1238C>G MANE Select	NP_006507.2:p.Thr413Ser