Canonical Allele Identifier: CA543056391
Gene: GLYCTK HGNC NCBI

Linked Data

dbSNP Id: rs1295989073
gnomAD v2: 3-52327228-C-G
gnomAD v4: 3-52293212-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52293212C>G , CM000665.2:g.52293212C>G GRCh38
NC_000003.11:g.52327228C>G , CM000665.1:g.52327228C>G GRCh37
NC_000003.10:g.52302268C>G NCBI36
NG_023246.1:g.10393C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000436784.7:c.*86C>G MANE Select ENSP00000389175.2:n.*86C>G
ENST00000436784.6:c.*86C>G ENSP00000389175.2:n.*86C>G
ENST00000471180.5:c.*58+20C>G ENSP00000417526.1:n.*58+20C>G
ENST00000473032.5:c.*58+20C>G ENSP00000418951.1:n.*58+20C>G
ENST00000486393.5:c.*1021C>G ENSP00000419868.1:n.*1021C>G
ENST00000489173.1:n.1914+38C>G
NM_145262.3:c.*86C>G NP_660305.2:n.*86C>G
NR_026699.1:n.1756C>G
NR_026700.1:n.842+20C>G
NR_026701.1:n.1734+20C>G
NR_026702.1:n.772+20C>G
XM_005264878.2:c.*777C>G XP_005264935.1:n.*777C>G
XR_245095.2:n.2889+20C>G
XM_017005730.1:c.*86C>G XP_016861219.1:n.*86C>G
XM_024453351.1:c.*86C>G XP_024309119.1:n.*86C>G
XM_024453352.1:c.*777C>G XP_024309120.1:n.*777C>G
XR_001740022.2:n.3540+20C>G
XR_001740023.2:n.3064+20C>G
XR_245095.4:n.2890+20C>G
NM_145262.4:c.*86C>G MANE Select NP_660305.2:n.*86C>G
NR_026699.2:n.1748C>G
NR_026700.2:n.834+20C>G
NR_026701.2:n.1726+20C>G
NR_026702.2:n.764+20C>G
NM_001144951.2:c.*777C>G NP_001138423.1:n.*777C>G