Canonical Allele Identifier: CA2739700604
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930582T>A , CM000663.2:g.42930582T>A GRCh38
NC_000001.10:g.43396253T>A , CM000663.1:g.43396253T>A GRCh37
NC_000001.9:g.43168840T>A NCBI36
NG_008232.1:g.33595A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.516+44A>T MANE Select ENSP00000416293.2:n.516+44A>T
ENST00000674765.1:c.516+44A>T ENSP00000501811.1:n.516+44A>T
ENST00000675112.1:n.539+44A>T
ENST00000676254.1:n.965+44A>T
ENST00000426263.7:c.516+44A>T ENSP00000416293.2:n.516+44A>T
ENST00000439722.2:c.395+44A>T ENSP00000395521.2:n.395+44A>T
ENST00000475162.3:c.415+44A>T
ENST00000625233.2:n.768A>T
ENST00000630287.2:c.516+44A>T ENSP00000486694.1:n.516+44A>T
NM_006516.2:c.516+44A>T NP_006507.2:n.516+44A>T
NM_006516.3:c.516+44A>T NP_006507.2:n.516+44A>T
NM_006516.4:c.516+44A>T MANE Select NP_006507.2:n.516+44A>T