Canonical Allele Identifier: CA353075459
Gene: GLYCTK HGNC NCBI

Linked Data

dbSNP Id: rs1291253248
gnomAD v2: 3-52326763-G-A
gnomAD v4: 3-52292747-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52292747G>A , CM000665.2:g.52292747G>A GRCh38
NC_000003.11:g.52326763G>A , CM000665.1:g.52326763G>A GRCh37
NC_000003.10:g.52301803G>A NCBI36
NG_023246.1:g.9928G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000436784.7:c.1193G>A MANE Select ENSP00000389175.2:p.Gly398Glu
ENST00000305690.12:c.*312G>A ENSP00000301965.9:n.*312G>A
ENST00000436784.6:c.1193G>A ENSP00000389175.2:p.Gly398Glu
ENST00000461183.5:c.763+178G>A ENSP00000417264.1:n.763+178G>A
ENST00000471180.5:c.634+178G>A ENSP00000417526.1:n.634+178G>A
ENST00000473032.5:c.530-299G>A ENSP00000418951.1:n.530-299G>A
ENST00000477382.1:c.*312G>A ENSP00000419008.1:n.*312G>A
ENST00000486393.5:c.*556G>A ENSP00000419868.1:n.*556G>A
ENST00000489173.1:n.1487G>A
NM_001144951.1:c.*312G>A NP_001138423.1:n.*312G>A
NM_145262.3:c.1193G>A NP_660305.2:p.Gly398Glu
NR_026699.1:n.1291G>A
NR_026700.1:n.695+178G>A
NR_026701.1:n.1289G>A
NR_026702.1:n.626-299G>A
XM_005264878.2:c.*312G>A XP_005264935.1:n.*312G>A
XR_245095.2:n.2742+178G>A
XM_017005730.1:c.812G>A XP_016861219.1:p.Gly271Glu
XM_024453351.1:c.1193G>A XP_024309119.1:p.Gly398Glu
XM_024453352.1:c.*312G>A XP_024309120.1:n.*312G>A
XR_001740022.2:n.3095G>A
XR_001740023.2:n.2917+178G>A
XR_245095.4:n.2743+178G>A
NM_145262.4:c.1193G>A MANE Select NP_660305.2:p.Gly398Glu
NR_026699.2:n.1283G>A
NR_026700.2:n.687+178G>A
NR_026701.2:n.1281G>A
NR_026702.2:n.618-299G>A
NM_001144951.2:c.*312G>A NP_001138423.1:n.*312G>A