Canonical Allele Identifier: CA1047961814
Gene: GLYCTK HGNC NCBI

Linked Data

dbSNP Id: rs1700542634
gnomAD v3: 3-52293207-C-T
gnomAD v4: 3-52293207-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52293207C>T , CM000665.2:g.52293207C>T GRCh38
NC_000003.11:g.52327223C>T , CM000665.1:g.52327223C>T GRCh37
NC_000003.10:g.52302263C>T NCBI36
NG_023246.1:g.10388C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000436784.7:c.*81C>T MANE Select ENSP00000389175.2:n.*81C>T
ENST00000436784.6:c.*81C>T ENSP00000389175.2:n.*81C>T
ENST00000471180.5:c.*58+15C>T ENSP00000417526.1:n.*58+15C>T
ENST00000473032.5:c.*58+15C>T ENSP00000418951.1:n.*58+15C>T
ENST00000486393.5:c.*1016C>T ENSP00000419868.1:n.*1016C>T
ENST00000489173.1:n.1914+33C>T
NM_145262.3:c.*81C>T NP_660305.2:n.*81C>T
NR_026699.1:n.1751C>T
NR_026700.1:n.842+15C>T
NR_026701.1:n.1734+15C>T
NR_026702.1:n.772+15C>T
XM_005264878.2:c.*772C>T XP_005264935.1:n.*772C>T
XR_245095.2:n.2889+15C>T
XM_017005730.1:c.*81C>T XP_016861219.1:n.*81C>T
XM_024453351.1:c.*81C>T XP_024309119.1:n.*81C>T
XM_024453352.1:c.*772C>T XP_024309120.1:n.*772C>T
XR_001740022.2:n.3540+15C>T
XR_001740023.2:n.3064+15C>T
XR_245095.4:n.2890+15C>T
NM_145262.4:c.*81C>T MANE Select NP_660305.2:n.*81C>T
NR_026699.2:n.1743C>T
NR_026700.2:n.834+15C>T
NR_026701.2:n.1726+15C>T
NR_026702.2:n.764+15C>T
NM_001144951.2:c.*772C>T NP_001138423.1:n.*772C>T