Canonical Allele Identifier: CA2432315
Gene: GLYCTK HGNC NCBI

Linked Data

dbSNP Id: rs765804925
gnomAD v2: 3-52326961-G-A
gnomAD v3: 3-52292945-G-A
gnomAD v4: 3-52292945-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52292945G>A , CM000665.2:g.52292945G>A GRCh38
NC_000003.11:g.52326961G>A , CM000665.1:g.52326961G>A GRCh37
NC_000003.10:g.52302001G>A NCBI36
NG_023246.1:g.10126G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000436784.7:c.1391G>A MANE Select ENSP00000389175.2:p.Trp464Ter
ENST00000305690.12:c.*510G>A ENSP00000301965.9:n.*510G>A
ENST00000436784.6:c.1391G>A ENSP00000389175.2:p.Trp464Ter
ENST00000461183.5:c.764-101G>A ENSP00000417264.1:n.764-101G>A
ENST00000471180.5:c.635-101G>A ENSP00000417526.1:n.635-101G>A
ENST00000473032.5:c.530-101G>A ENSP00000418951.1:n.530-101G>A
ENST00000477382.1:c.*510G>A ENSP00000419008.1:n.*510G>A
ENST00000486393.5:c.*754G>A ENSP00000419868.1:n.*754G>A
ENST00000489173.1:n.1685G>A
NM_001144951.1:c.*510G>A NP_001138423.1:n.*510G>A
NM_145262.3:c.1391G>A NP_660305.2:p.Trp464Ter
NR_026699.1:n.1489G>A
NR_026700.1:n.696-101G>A
NR_026701.1:n.1487G>A
NR_026702.1:n.626-101G>A
XM_005264878.2:c.*510G>A XP_005264935.1:n.*510G>A
XR_245095.2:n.2743-101G>A
XM_017005730.1:c.1010G>A XP_016861219.1:p.Trp337Ter
XM_024453351.1:c.1391G>A XP_024309119.1:p.Trp464Ter
XM_024453352.1:c.*510G>A XP_024309120.1:n.*510G>A
XR_001740022.2:n.3293G>A
XR_001740023.2:n.2918-101G>A
XR_245095.4:n.2744-101G>A
NM_145262.4:c.1391G>A MANE Select NP_660305.2:p.Trp464Ter
NR_026699.2:n.1481G>A
NR_026700.2:n.688-101G>A
NR_026701.2:n.1479G>A
NR_026702.2:n.618-101G>A
NM_001144951.2:c.*510G>A NP_001138423.1:n.*510G>A