Canonical Allele Identifier: CA2739700104
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929155T>G , CM000663.2:g.42929155T>G GRCh38
NC_000001.10:g.43394826T>G , CM000663.1:g.43394826T>G GRCh37
NC_000001.9:g.43167413T>G NCBI36
NG_008232.1:g.35022A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.972+55A>C MANE Select ENSP00000416293.2:n.972+55A>C
ENST00000674545.1:n.345A>C
ENST00000674765.1:c.972+55A>C ENSP00000501811.1:n.972+55A>C
ENST00000675112.1:n.1273+55A>C
ENST00000676254.1:n.1421+55A>C
ENST00000426263.7:c.972+55A>C ENSP00000416293.2:n.972+55A>C
ENST00000439722.2:c.851+55A>C ENSP00000395521.2:n.851+55A>C
ENST00000475162.3:c.415+1471A>C
ENST00000630287.2:c.*287+55A>C ENSP00000486694.1:n.*287+55A>C
NM_006516.2:c.972+55A>C NP_006507.2:n.972+55A>C
NM_006516.3:c.972+55A>C NP_006507.2:n.972+55A>C
NM_006516.4:c.972+55A>C MANE Select NP_006507.2:n.972+55A>C