Canonical Allele Identifier: CA339964816
Community Standard Title: NM_006516.4(SLC2A1):c.73C>A (p.Gln25Lys)
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42943267G>T , CM000663.2:g.42943267G>T GRCh38
NC_000001.10:g.43408938G>T , CM000663.1:g.43408938G>T GRCh37
NC_000001.9:g.43181525G>T NCBI36
NG_008232.1:g.20910C>A

Transcript Alleles

HGVS Amino-acid Change
NM_006516.4:c.73C>A MANE Select NP_006507.2:p.Gln25Lys
ENST00000426263.10:c.73C>A MANE Select ENSP00000416293.2:p.Gln25Lys
NM_006516.2:c.73C>A NP_006507.2:p.Gln25Lys
NM_006516.3:c.73C>A NP_006507.2:p.Gln25Lys
ENST00000372500.4:c.19-12061C>A ENSP00000361578.4:n.19-12061C>A
ENST00000415851.6:n.290C>A
ENST00000426263.7:c.73C>A ENSP00000416293.2:p.Gln25Lys
ENST00000625233.2:n.281C>A
ENST00000628173.1:n.292C>A
ENST00000630287.2:c.73C>A ENSP00000486694.1:p.Gln25Lys
ENST00000630821.1:n.290C>A
ENST00000674765.1:c.73C>A ENSP00000501811.1:p.Gln25Lys
ENST00000675112.1:n.96C>A