Canonical Allele Identifier: CA2432330

Gene: GLYCTK

Linked Data

• dbSNP Id: rs771159734
• ExAC: 3:52327027 A / G
• gnomAD v2: 3-52327027-A-G
• gnomAD v3: 3-52293011-A-G
• gnomAD v4: 3-52293011-A-G
• MyVariant Identifiers: chr3:g.52327027A>G (hg19) ; chr3:g.52293011A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293011A>G , CM000665.2:g.52293011A>G	GRCh38
NC_000003.11:g.52327027A>G , CM000665.1:g.52327027A>G	GRCh37
NC_000003.10:g.52302067A>G	NCBI36
NG_023246.1:g.10192A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1457A>G MANE Select	ENSP00000389175.2:p.His486Arg
ENST00000436784.6:c.1457A>G	ENSP00000389175.2:p.His486Arg
ENST00000461183.5:c.764-35A>G	ENSP00000417264.1:n.764-35A>G
ENST00000471180.5:c.635-35A>G	ENSP00000417526.1:n.635-35A>G
ENST00000473032.5:c.530-35A>G	ENSP00000418951.1:n.530-35A>G
ENST00000486393.5:c.*820A>G	ENSP00000419868.1:n.*820A>G
ENST00000489173.1:n.1751A>G
NM_145262.3:c.1457A>G	NP_660305.2:p.His486Arg
NR_026699.1:n.1555A>G
NR_026700.1:n.696-35A>G
NR_026701.1:n.1553A>G
NR_026702.1:n.626-35A>G
XM_005264878.2:c.*576A>G	XP_005264935.1:n.*576A>G
XR_245095.2:n.2743-35A>G
XM_017005730.1:c.1076A>G	XP_016861219.1:p.His359Arg
XM_024453351.1:c.1457A>G	XP_024309119.1:p.His486Arg
XM_024453352.1:c.*576A>G	XP_024309120.1:n.*576A>G
XR_001740022.2:n.3359A>G
XR_001740023.2:n.2918-35A>G
XR_245095.4:n.2744-35A>G
NM_145262.4:c.1457A>G MANE Select	NP_660305.2:p.His486Arg
NR_026699.2:n.1547A>G
NR_026700.2:n.688-35A>G
NR_026701.2:n.1545A>G
NR_026702.2:n.618-35A>G
NM_001144951.2:c.*576A>G	NP_001138423.1:n.*576A>G