Canonical Allele Identifier: CA74736880

Gene: GLYCTK

Linked Data

• dbSNP Id: rs146102973
• gnomAD v2: 3-52327107-A-G
• MyVariant Identifiers: chr3:g.52327107A>G (hg19) ; chr3:g.52293091A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293091A>G , CM000665.2:g.52293091A>G	GRCh38
NC_000003.11:g.52327107A>G , CM000665.1:g.52327107A>G	GRCh37
NC_000003.10:g.52302147A>G	NCBI36
NG_023246.1:g.10272A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1537A>G MANE Select	ENSP00000389175.2:p.Met513Val
ENST00000436784.6:c.1537A>G	ENSP00000389175.2:p.Met513Val
ENST00000461183.5:c.809A>G	ENSP00000417264.1:p.His270Arg
ENST00000471180.5:c.680A>G	ENSP00000417526.1:p.His227Arg
ENST00000473032.5:c.575A>G	ENSP00000418951.1:p.His192Arg
ENST00000486393.5:c.*900A>G	ENSP00000419868.1:n.*900A>G
ENST00000489173.1:n.1831A>G
NM_145262.3:c.1537A>G	NP_660305.2:p.Met513Val
NR_026699.1:n.1635A>G
NR_026700.1:n.741A>G
NR_026701.1:n.1633A>G
NR_026702.1:n.671A>G
XM_005264878.2:c.*656A>G	XP_005264935.1:n.*656A>G
XR_245095.2:n.2788A>G
XM_017005730.1:c.1156A>G	XP_016861219.1:p.Met386Val
XM_024453351.1:c.1537A>G	XP_024309119.1:p.Met513Val
XM_024453352.1:c.*656A>G	XP_024309120.1:n.*656A>G
XR_001740022.2:n.3439A>G
XR_001740023.2:n.2963A>G
XR_245095.4:n.2789A>G
NM_145262.4:c.1537A>G MANE Select	NP_660305.2:p.Met513Val
NR_026699.2:n.1627A>G
NR_026700.2:n.733A>G
NR_026701.2:n.1625A>G
NR_026702.2:n.663A>G
NM_001144951.2:c.*656A>G	NP_001138423.1:n.*656A>G