Canonical Allele Identifier: CA417543440

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42929758-T-C
• MyVariant Identifiers: chr1:g.43395429T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929758T>C , CM000663.2:g.42929758T>C	GRCh38
NC_000001.10:g.43395429T>C , CM000663.1:g.43395429T>C	GRCh37
NC_000001.9:g.43168016T>C	NCBI36
NG_008232.1:g.34419A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.702A>G MANE Select	ENSP00000416293.2:p.Thr234=
ENST00000669445.1:c.57-25A>G
ENST00000674765.1:c.702A>G	ENSP00000501811.1:p.Thr234=
ENST00000675112.1:n.725A>G
ENST00000676254.1:n.1151A>G
ENST00000426263.7:c.702A>G	ENSP00000416293.2:p.Thr234=
ENST00000439722.2:c.581A>G	ENSP00000395521.2:n.581A>G
ENST00000475162.3:c.415+868A>G
ENST00000630287.2:c.*17A>G	ENSP00000486694.1:n.*17A>G
NM_006516.2:c.702A>G	NP_006507.2:p.Thr234=
NM_006516.3:c.702A>G	NP_006507.2:p.Thr234=
NM_006516.4:c.702A>G MANE Select	NP_006507.2:p.Thr234=