Canonical Allele Identifier: CA129493
Gene: GLYCTK HGNC NCBI

Linked Data

ClinVar Variation Id: 30836
dbSNP Id: rs121909448
gnomAD v2: 3-52327048-T-G
gnomAD v3: 3-52293032-T-G
gnomAD v4: 3-52293032-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52293032T>G , CM000665.2:g.52293032T>G GRCh38
NC_000003.11:g.52327048T>G , CM000665.1:g.52327048T>G GRCh37
NC_000003.10:g.52302088T>G NCBI36
NG_023246.1:g.10213T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000436784.7:c.1478T>G MANE Select ENSP00000389175.2:p.Phe493Cys
ENST00000436784.6:c.1478T>G ENSP00000389175.2:p.Phe493Cys
ENST00000461183.5:c.764-14T>G ENSP00000417264.1:n.764-14T>G
ENST00000471180.5:c.635-14T>G ENSP00000417526.1:n.635-14T>G
ENST00000473032.5:c.530-14T>G ENSP00000418951.1:n.530-14T>G
ENST00000486393.5:c.*841T>G ENSP00000419868.1:n.*841T>G
ENST00000489173.1:n.1772T>G
NM_145262.3:c.1478T>G NP_660305.2:p.Phe493Cys
NR_026699.1:n.1576T>G
NR_026700.1:n.696-14T>G
NR_026701.1:n.1574T>G
NR_026702.1:n.626-14T>G
XM_005264878.2:c.*597T>G XP_005264935.1:n.*597T>G
XR_245095.2:n.2743-14T>G
XM_017005730.1:c.1097T>G XP_016861219.1:p.Phe366Cys
XM_024453351.1:c.1478T>G XP_024309119.1:p.Phe493Cys
XM_024453352.1:c.*597T>G XP_024309120.1:n.*597T>G
XR_001740022.2:n.3380T>G
XR_001740023.2:n.2918-14T>G
XR_245095.4:n.2744-14T>G
NM_145262.4:c.1478T>G MANE Select NP_660305.2:p.Phe493Cys
NR_026699.2:n.1568T>G
NR_026700.2:n.688-14T>G
NR_026701.2:n.1566T>G
NR_026702.2:n.618-14T>G
NM_001144951.2:c.*597T>G NP_001138423.1:n.*597T>G