Canonical Allele Identifier: CA2432334

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 791925
• ClinVar RCV Id: RCV000974981
• dbSNP Id: rs78388149
• ExAC: 3:52327038 C / T
• gnomAD v2: 3-52327038-C-T
• gnomAD v3: 3-52293022-C-T
• gnomAD v4: 3-52293022-C-T
• MyVariant Identifiers: chr3:g.52327038C>T (hg19) ; chr3:g.52293022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293022C>T , CM000665.2:g.52293022C>T	GRCh38
NC_000003.11:g.52327038C>T , CM000665.1:g.52327038C>T	GRCh37
NC_000003.10:g.52302078C>T	NCBI36
NG_023246.1:g.10203C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000436784.7:c.1468C>T MANE Select	ENSP00000389175.2:p.His490Tyr
ENST00000436784.6:c.1468C>T	ENSP00000389175.2:p.His490Tyr
ENST00000461183.5:c.764-24C>T	ENSP00000417264.1:n.764-24C>T
ENST00000471180.5:c.635-24C>T	ENSP00000417526.1:n.635-24C>T
ENST00000473032.5:c.530-24C>T	ENSP00000418951.1:n.530-24C>T
ENST00000486393.5:c.*831C>T	ENSP00000419868.1:n.*831C>T
ENST00000489173.1:n.1762C>T
NM_145262.3:c.1468C>T	NP_660305.2:p.His490Tyr
NR_026699.1:n.1566C>T
NR_026700.1:n.696-24C>T
NR_026701.1:n.1564C>T
NR_026702.1:n.626-24C>T
XM_005264878.2:c.*587C>T	XP_005264935.1:n.*587C>T
XR_245095.2:n.2743-24C>T
XM_017005730.1:c.1087C>T	XP_016861219.1:p.His363Tyr
XM_024453351.1:c.1468C>T	XP_024309119.1:p.His490Tyr
XM_024453352.1:c.*587C>T	XP_024309120.1:n.*587C>T
XR_001740022.2:n.3370C>T
XR_001740023.2:n.2918-24C>T
XR_245095.4:n.2744-24C>T
NM_145262.4:c.1468C>T MANE Select	NP_660305.2:p.His490Tyr
NR_026699.2:n.1558C>T
NR_026700.2:n.688-24C>T
NR_026701.2:n.1556C>T
NR_026702.2:n.618-24C>T
NM_001144951.2:c.*587C>T	NP_001138423.1:n.*587C>T