Canonical Allele Identifier: CA2695705596
Gene: SLC2A1 HGNC NCBI

Linked Data

dbSNP Id: rs2124449701

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930315G>A , CM000663.2:g.42930315G>A GRCh38
NC_000001.10:g.43395986G>A , CM000663.1:g.43395986G>A GRCh37
NC_000001.9:g.43168573G>A NCBI36
NG_008232.1:g.33862C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.517-280C>T MANE Select ENSP00000416293.2:n.517-280C>T
ENST00000674765.1:c.517-280C>T ENSP00000501811.1:n.517-280C>T
ENST00000675112.1:n.540-280C>T
ENST00000676254.1:n.966-280C>T
ENST00000426263.7:c.517-280C>T ENSP00000416293.2:n.517-280C>T
ENST00000439722.2:c.396-280C>T ENSP00000395521.2:n.396-280C>T
ENST00000475162.3:c.415+311C>T
ENST00000630287.2:c.516+311C>T ENSP00000486694.1:n.516+311C>T
NM_006516.2:c.517-280C>T NP_006507.2:n.517-280C>T
NM_006516.3:c.517-280C>T NP_006507.2:n.517-280C>T
NM_006516.4:c.517-280C>T MANE Select NP_006507.2:n.517-280C>T