Canonical Allele Identifier: CA433751899
Community Standard Title: NM_145262.4(GLYCTK):c.642C>T (p.Thr214=)
Gene: GLYCTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52291859C>T , CM000665.2:g.52291859C>T GRCh38
NC_000003.11:g.52325875C>T , CM000665.1:g.52325875C>T GRCh37
NC_000003.10:g.52300915C>T NCBI36
NG_023246.1:g.9040C>T

Transcript Alleles

HGVS Amino-acid Change
NM_145262.4:c.642C>T MANE Select NP_660305.2:p.Thr214=
ENST00000436784.7:c.642C>T MANE Select ENSP00000389175.2:p.Thr214=
NM_001144951.1:c.530-401C>T NP_001138423.1:n.530-401C>T
NM_001144951.2:c.530-401C>T NP_001138423.1:n.530-401C>T
NM_145262.3:c.642C>T NP_660305.2:p.Thr214=
NR_026699.1:n.740C>T
NR_026699.2:n.732C>T
NR_026700.1:n.322C>T
NR_026700.2:n.314C>T
NR_026701.1:n.738C>T
NR_026701.2:n.730C>T
NR_026702.1:n.625+748C>T
NR_026702.2:n.617+748C>T
ENST00000305690.12:c.530-401C>T ENSP00000301965.9:n.530-401C>T
ENST00000436784.6:c.642C>T ENSP00000389175.2:p.Thr214=
ENST00000461183.5:c.390C>T ENSP00000417264.1:p.Thr130=
ENST00000471180.5:c.261C>T ENSP00000417526.1:p.Thr87=
ENST00000473032.5:c.529+748C>T ENSP00000418951.1:n.529+748C>T
ENST00000473583.1:n.799-401C>T
ENST00000477382.1:c.530-401C>T ENSP00000419008.1:n.530-401C>T
ENST00000486393.5:c.*5C>T ENSP00000419868.1:n.*5C>T
ENST00000489173.1:n.936C>T
XM_005264878.2:c.530-401C>T XP_005264935.1:n.530-401C>T
XM_017005730.1:c.261C>T XP_016861219.1:p.Thr87=
XM_024453351.1:c.642C>T XP_024309119.1:p.Thr214=
XM_024453352.1:c.530-401C>T XP_024309120.1:n.530-401C>T
XR_001740022.2:n.2544C>T
XR_001740023.2:n.2544C>T
XR_245095.2:n.2433-401C>T
XR_245095.4:n.2434-401C>T