Canonical Allele Identifier: CA2432350

Gene: GLYCTK

Linked Data

• dbSNP Id: rs770144281
• ExAC: 3:52327115 C / G
• gnomAD v2: 3-52327115-C-G
• MyVariant Identifiers: chr3:g.52327115C>G (hg19) ; chr3:g.52293099C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293099C>G , CM000665.2:g.52293099C>G	GRCh38
NC_000003.11:g.52327115C>G , CM000665.1:g.52327115C>G	GRCh37
NC_000003.10:g.52302155C>G	NCBI36
NG_023246.1:g.10280C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1545C>G MANE Select	ENSP00000389175.2:p.Thr515=
ENST00000436784.6:c.1545C>G	ENSP00000389175.2:p.Thr515=
ENST00000461183.5:c.817C>G	ENSP00000417264.1:p.Pro273Ala
ENST00000471180.5:c.688C>G	ENSP00000417526.1:p.Pro230Ala
ENST00000473032.5:c.583C>G	ENSP00000418951.1:p.Pro195Ala
ENST00000486393.5:c.*908C>G	ENSP00000419868.1:n.*908C>G
ENST00000489173.1:n.1839C>G
NM_145262.3:c.1545C>G	NP_660305.2:p.Thr515=
NR_026699.1:n.1643C>G
NR_026700.1:n.749C>G
NR_026701.1:n.1641C>G
NR_026702.1:n.679C>G
XM_005264878.2:c.*664C>G	XP_005264935.1:n.*664C>G
XR_245095.2:n.2796C>G
XM_017005730.1:c.1164C>G	XP_016861219.1:p.Thr388=
XM_024453351.1:c.1545C>G	XP_024309119.1:p.Thr515=
XM_024453352.1:c.*664C>G	XP_024309120.1:n.*664C>G
XR_001740022.2:n.3447C>G
XR_001740023.2:n.2971C>G
XR_245095.4:n.2797C>G
NM_145262.4:c.1545C>G MANE Select	NP_660305.2:p.Thr515=
NR_026699.2:n.1635C>G
NR_026700.2:n.741C>G
NR_026701.2:n.1633C>G
NR_026702.2:n.671C>G
NM_001144951.2:c.*664C>G	NP_001138423.1:n.*664C>G