Canonical Allele Identifier: CA2432343

Gene: GLYCTK

Linked Data

• dbSNP Id: rs747943703
• ExAC: 3:52327083 A / G
• gnomAD v2: 3-52327083-A-G
• gnomAD v4: 3-52293067-A-G
• MyVariant Identifiers: chr3:g.52327083A>G (hg19) ; chr3:g.52293067A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293067A>G , CM000665.2:g.52293067A>G	GRCh38
NC_000003.11:g.52327083A>G , CM000665.1:g.52327083A>G	GRCh37
NC_000003.10:g.52302123A>G	NCBI36
NG_023246.1:g.10248A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000436784.7:c.1513A>G MANE Select	ENSP00000389175.2:p.Thr505Ala
ENST00000436784.6:c.1513A>G	ENSP00000389175.2:p.Thr505Ala
ENST00000461183.5:c.785A>G	ENSP00000417264.1:p.His262Arg
ENST00000471180.5:c.656A>G	ENSP00000417526.1:p.His219Arg
ENST00000473032.5:c.551A>G	ENSP00000418951.1:p.His184Arg
ENST00000486393.5:c.*876A>G	ENSP00000419868.1:n.*876A>G
ENST00000489173.1:n.1807A>G
NM_145262.3:c.1513A>G	NP_660305.2:p.Thr505Ala
NR_026699.1:n.1611A>G
NR_026700.1:n.717A>G
NR_026701.1:n.1609A>G
NR_026702.1:n.647A>G
XM_005264878.2:c.*632A>G	XP_005264935.1:n.*632A>G
XR_245095.2:n.2764A>G
XM_017005730.1:c.1132A>G	XP_016861219.1:p.Thr378Ala
XM_024453351.1:c.1513A>G	XP_024309119.1:p.Thr505Ala
XM_024453352.1:c.*632A>G	XP_024309120.1:n.*632A>G
XR_001740022.2:n.3415A>G
XR_001740023.2:n.2939A>G
XR_245095.4:n.2765A>G
NM_145262.4:c.1513A>G MANE Select	NP_660305.2:p.Thr505Ala
NR_026699.2:n.1603A>G
NR_026700.2:n.709A>G
NR_026701.2:n.1601A>G
NR_026702.2:n.639A>G
NM_001144951.2:c.*632A>G	NP_001138423.1:n.*632A>G