Canonical Allele Identifier: CA2432243
Gene: GLYCTK HGNC NCBI

Linked Data

dbSNP Id: rs370096769
gnomAD v2: 3-52326615-G-A
gnomAD v3: 3-52292599-G-A
gnomAD v4: 3-52292599-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52292599G>A , CM000665.2:g.52292599G>A GRCh38
NC_000003.11:g.52326615G>A , CM000665.1:g.52326615G>A GRCh37
NC_000003.10:g.52301655G>A NCBI36
NG_023246.1:g.9780G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000436784.7:c.1045G>A MANE Select ENSP00000389175.2:p.Gly349Arg
ENST00000305690.12:c.*164G>A ENSP00000301965.9:n.*164G>A
ENST00000436784.6:c.1045G>A ENSP00000389175.2:p.Gly349Arg
ENST00000461183.5:c.763+30G>A ENSP00000417264.1:n.763+30G>A
ENST00000471180.5:c.634+30G>A ENSP00000417526.1:n.634+30G>A
ENST00000473032.5:c.530-447G>A ENSP00000418951.1:n.530-447G>A
ENST00000477382.1:c.*164G>A ENSP00000419008.1:n.*164G>A
ENST00000486393.5:c.*408G>A ENSP00000419868.1:n.*408G>A
ENST00000489173.1:n.1339G>A
NM_001144951.1:c.*164G>A NP_001138423.1:n.*164G>A
NM_145262.3:c.1045G>A NP_660305.2:p.Gly349Arg
NR_026699.1:n.1143G>A
NR_026700.1:n.695+30G>A
NR_026701.1:n.1141G>A
NR_026702.1:n.626-447G>A
XM_005264878.2:c.*164G>A XP_005264935.1:n.*164G>A
XR_245095.2:n.2742+30G>A
XM_017005730.1:c.664G>A XP_016861219.1:p.Gly222Arg
XM_024453351.1:c.1045G>A XP_024309119.1:p.Gly349Arg
XM_024453352.1:c.*164G>A XP_024309120.1:n.*164G>A
XR_001740022.2:n.2947G>A
XR_001740023.2:n.2917+30G>A
XR_245095.4:n.2743+30G>A
NM_145262.4:c.1045G>A MANE Select NP_660305.2:p.Gly349Arg
NR_026699.2:n.1135G>A
NR_026700.2:n.687+30G>A
NR_026701.2:n.1133G>A
NR_026702.2:n.618-447G>A
NM_001144951.2:c.*164G>A NP_001138423.1:n.*164G>A