Canonical Allele Identifier: CA2432229
Community Standard Title: NM_145262.4(GLYCTK):c.967G>A (p.Ala323Thr)
Gene: GLYCTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52292521G>A , CM000665.2:g.52292521G>A GRCh38
NC_000003.11:g.52326537G>A , CM000665.1:g.52326537G>A GRCh37
NC_000003.10:g.52301577G>A NCBI36
NG_023246.1:g.9702G>A

Transcript Alleles

HGVS Amino-acid Change
NM_145262.4:c.967G>A MANE Select NP_660305.2:p.Ala323Thr
ENST00000436784.7:c.967G>A MANE Select ENSP00000389175.2:p.Ala323Thr
NM_001144951.1:c.*86G>A NP_001138423.1:n.*86G>A
NM_001144951.2:c.*86G>A NP_001138423.1:n.*86G>A
NM_145262.3:c.967G>A NP_660305.2:p.Ala323Thr
NR_026699.1:n.1065G>A
NR_026699.2:n.1057G>A
NR_026700.1:n.647G>A
NR_026700.2:n.639G>A
NR_026701.1:n.1063G>A
NR_026701.2:n.1055G>A
NR_026702.1:n.626-525G>A
NR_026702.2:n.618-525G>A
ENST00000305690.12:c.*86G>A ENSP00000301965.9:n.*86G>A
ENST00000436784.6:c.967G>A ENSP00000389175.2:p.Ala323Thr
ENST00000461183.5:c.715G>A ENSP00000417264.1:p.Ala239Thr
ENST00000471180.5:c.586G>A ENSP00000417526.1:p.Ala196Thr
ENST00000473032.5:c.530-525G>A ENSP00000418951.1:n.530-525G>A
ENST00000477382.1:c.*86G>A ENSP00000419008.1:n.*86G>A
ENST00000486393.5:c.*330G>A ENSP00000419868.1:n.*330G>A
ENST00000489173.1:n.1261G>A
XM_005264878.2:c.*86G>A XP_005264935.1:n.*86G>A
XM_017005730.1:c.586G>A XP_016861219.1:p.Ala196Thr
XM_024453351.1:c.967G>A XP_024309119.1:p.Ala323Thr
XM_024453352.1:c.*86G>A XP_024309120.1:n.*86G>A
XR_001740022.2:n.2869G>A
XR_001740023.2:n.2869G>A
XR_245095.2:n.2694G>A
XR_245095.4:n.2695G>A