Canonical Allele Identifier: CA21251204

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1320153
• ClinVar RCV Id: RCV001775326
• dbSNP Id: rs112081052
• MyVariant Identifiers: chr1:g.43395454G>C (hg19) ; chr1:g.42929783G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929783G>C , CM000663.2:g.42929783G>C	GRCh38
NC_000001.10:g.43395454G>C , CM000663.1:g.43395454G>C	GRCh37
NC_000001.9:g.43168041G>C	NCBI36
NG_008232.1:g.34394C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.680-3C>G MANE Select	ENSP00000416293.2:n.680-3C>G
ENST00000669445.1:c.57-50C>G
ENST00000674765.1:c.680-3C>G	ENSP00000501811.1:n.680-3C>G
ENST00000675112.1:n.703-3C>G
ENST00000676254.1:n.1129-3C>G
ENST00000426263.7:c.680-3C>G	ENSP00000416293.2:n.680-3C>G
ENST00000439722.2:c.559-3C>G	ENSP00000395521.2:n.559-3C>G
ENST00000475162.3:c.415+843C>G
ENST00000630287.2:c.517-3C>G	ENSP00000486694.1:n.517-3C>G
NM_006516.2:c.680-3C>G	NP_006507.2:n.680-3C>G
NM_006516.3:c.680-3C>G	NP_006507.2:n.680-3C>G
NM_006516.4:c.680-3C>G MANE Select	NP_006507.2:n.680-3C>G