Canonical Allele Identifier: CA353075768

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 3100429
• ClinVar RCV Id: RCV004393326
• dbSNP Id: rs199610904
• gnomAD v4: 3-52292869-C-A
• MyVariant Identifiers: chr3:g.52326885C>A (hg19) ; chr3:g.52292869C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292869C>A , CM000665.2:g.52292869C>A	GRCh38
NC_000003.11:g.52326885C>A , CM000665.1:g.52326885C>A	GRCh37
NC_000003.10:g.52301925C>A	NCBI36
NG_023246.1:g.10050C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1315C>A MANE Select	ENSP00000389175.2:p.Leu439Met
ENST00000305690.12:c.*434C>A	ENSP00000301965.9:n.*434C>A
ENST00000436784.6:c.1315C>A	ENSP00000389175.2:p.Leu439Met
ENST00000461183.5:c.764-177C>A	ENSP00000417264.1:n.764-177C>A
ENST00000471180.5:c.635-177C>A	ENSP00000417526.1:n.635-177C>A
ENST00000473032.5:c.530-177C>A	ENSP00000418951.1:n.530-177C>A
ENST00000477382.1:c.*434C>A	ENSP00000419008.1:n.*434C>A
ENST00000486393.5:c.*678C>A	ENSP00000419868.1:n.*678C>A
ENST00000489173.1:n.1609C>A
NM_001144951.1:c.*434C>A	NP_001138423.1:n.*434C>A
NM_145262.3:c.1315C>A	NP_660305.2:p.Leu439Met
NR_026699.1:n.1413C>A
NR_026700.1:n.696-177C>A
NR_026701.1:n.1411C>A
NR_026702.1:n.626-177C>A
XM_005264878.2:c.*434C>A	XP_005264935.1:n.*434C>A
XR_245095.2:n.2743-177C>A
XM_017005730.1:c.934C>A	XP_016861219.1:p.Leu312Met
XM_024453351.1:c.1315C>A	XP_024309119.1:p.Leu439Met
XM_024453352.1:c.*434C>A	XP_024309120.1:n.*434C>A
XR_001740022.2:n.3217C>A
XR_001740023.2:n.2918-177C>A
XR_245095.4:n.2744-177C>A
NM_145262.4:c.1315C>A MANE Select	NP_660305.2:p.Leu439Met
NR_026699.2:n.1405C>A
NR_026700.2:n.688-177C>A
NR_026701.2:n.1403C>A
NR_026702.2:n.618-177C>A
NM_001144951.2:c.*434C>A	NP_001138423.1:n.*434C>A