Canonical Allele Identifier: CA1165412384
Community Standard Title: NM_006516.4(SLC2A1):c.724C= (p.Gln242=)
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929736G= , CM000663.2:g.42929736G= GRCh38
NC_000001.10:g.43395407G= , CM000663.1:g.43395407G= GRCh37
NC_000001.9:g.43167994G= NCBI36
NG_008232.1:g.34441C=

Transcript Alleles

HGVS Amino-acid Change
NM_006516.4:c.724C= MANE Select NP_006507.2:p.Gln242=
ENST00000426263.10:c.724C= MANE Select ENSP00000416293.2:p.Gln242=
NM_006516.2:c.724C= NP_006507.2:p.Gln242=
NM_006516.3:c.724C= NP_006507.2:p.Gln242=
ENST00000426263.7:c.724C= ENSP00000416293.2:p.Gln242=
ENST00000439722.2:c.603C= ENSP00000395521.2:n.603C=
ENST00000475162.3:c.415+890C=
ENST00000630287.2:c.*39C= ENSP00000486694.1:n.*39C=
ENST00000669445.1:c.57-3C=
ENST00000674765.1:c.724C= ENSP00000501811.1:p.Gln242=
ENST00000675112.1:n.747C=
ENST00000676254.1:n.1173C=