Canonical Allele Identifier: CA353076808
Gene: GLYCTK HGNC NCBI

Linked Data

gnomAD v4: 3-52293100-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52293100C>G , CM000665.2:g.52293100C>G GRCh38
NC_000003.11:g.52327116C>G , CM000665.1:g.52327116C>G GRCh37
NC_000003.10:g.52302156C>G NCBI36
NG_023246.1:g.10281C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000436784.7:c.1546C>G MANE Select ENSP00000389175.2:p.His516Asp
ENST00000436784.6:c.1546C>G ENSP00000389175.2:p.His516Asp
ENST00000461183.5:c.818C>G ENSP00000417264.1:p.Pro273Arg
ENST00000471180.5:c.689C>G ENSP00000417526.1:p.Pro230Arg
ENST00000473032.5:c.584C>G ENSP00000418951.1:p.Pro195Arg
ENST00000486393.5:c.*909C>G ENSP00000419868.1:n.*909C>G
ENST00000489173.1:n.1840C>G
NM_145262.3:c.1546C>G NP_660305.2:p.His516Asp
NR_026699.1:n.1644C>G
NR_026700.1:n.750C>G
NR_026701.1:n.1642C>G
NR_026702.1:n.680C>G
XM_005264878.2:c.*665C>G XP_005264935.1:n.*665C>G
XR_245095.2:n.2797C>G
XM_017005730.1:c.1165C>G XP_016861219.1:p.His389Asp
XM_024453351.1:c.1546C>G XP_024309119.1:p.His516Asp
XM_024453352.1:c.*665C>G XP_024309120.1:n.*665C>G
XR_001740022.2:n.3448C>G
XR_001740023.2:n.2972C>G
XR_245095.4:n.2798C>G
NM_145262.4:c.1546C>G MANE Select NP_660305.2:p.His516Asp
NR_026699.2:n.1636C>G
NR_026700.2:n.742C>G
NR_026701.2:n.1634C>G
NR_026702.2:n.672C>G
NM_001144951.2:c.*665C>G NP_001138423.1:n.*665C>G