Canonical Allele Identifier: CA339957095
Gene: SLC2A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929591A>G , CM000663.2:g.42929591A>G GRCh38
NC_000001.10:g.43395262A>G , CM000663.1:g.43395262A>G GRCh37
NC_000001.9:g.43167849A>G NCBI36
NG_008232.1:g.34586T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.867+2T>C MANE Select ENSP00000416293.2:n.867+2T>C
ENST00000674765.1:c.867+2T>C ENSP00000501811.1:n.867+2T>C
ENST00000675112.1:n.892T>C
ENST00000676254.1:n.1316+2T>C
ENST00000426263.7:c.867+2T>C ENSP00000416293.2:n.867+2T>C
ENST00000439722.2:c.746+2T>C ENSP00000395521.2:n.746+2T>C
ENST00000475162.3:c.415+1035T>C
ENST00000630287.2:c.*182+2T>C ENSP00000486694.1:n.*182+2T>C
NM_006516.2:c.867+2T>C NP_006507.2:n.867+2T>C
NM_006516.3:c.867+2T>C NP_006507.2:n.867+2T>C
NM_006516.4:c.867+2T>C MANE Select NP_006507.2:n.867+2T>C