Canonical Allele Identifier: CA543056256
Gene: GLYCTK HGNC NCBI

Linked Data

dbSNP Id: rs1322998082
gnomAD v2: 3-52327314-C-A
gnomAD v4: 3-52293298-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52293298C>A , CM000665.2:g.52293298C>A GRCh38
NC_000003.11:g.52327314C>A , CM000665.1:g.52327314C>A GRCh37
NC_000003.10:g.52302354C>A NCBI36
NG_023246.1:g.10479C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000436784.7:c.*172C>A MANE Select ENSP00000389175.2:n.*172C>A
ENST00000436784.6:c.*172C>A ENSP00000389175.2:n.*172C>A
ENST00000471180.5:c.*59-9C>A ENSP00000417526.1:n.*59-9C>A
ENST00000473032.5:c.*59-9C>A ENSP00000418951.1:n.*59-9C>A
ENST00000486393.5:c.*1107C>A ENSP00000419868.1:n.*1107C>A
ENST00000489173.1:n.1915-9C>A
NM_145262.3:c.*172C>A NP_660305.2:n.*172C>A
NR_026699.1:n.1842C>A
NR_026700.1:n.843-9C>A
NR_026701.1:n.1735-9C>A
NR_026702.1:n.773-9C>A
XM_005264878.2:c.*863C>A XP_005264935.1:n.*863C>A
XR_245095.2:n.2890-9C>A
XM_017005730.1:c.*172C>A XP_016861219.1:n.*172C>A
XM_024453351.1:c.*172C>A XP_024309119.1:n.*172C>A
XM_024453352.1:c.*863C>A XP_024309120.1:n.*863C>A
XR_001740022.2:n.3541-9C>A
XR_001740023.2:n.3065-9C>A
XR_245095.4:n.2891-9C>A
NM_145262.4:c.*172C>A MANE Select NP_660305.2:n.*172C>A
NR_026699.2:n.1834C>A
NR_026700.2:n.835-9C>A
NR_026701.2:n.1727-9C>A
NR_026702.2:n.765-9C>A
NM_001144951.2:c.*863C>A NP_001138423.1:n.*863C>A