Canonical Allele Identifier: CA2432289

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 2306093
• ClinVar RCV Id: RCV004149214
• dbSNP Id: rs774376060
• ExAC: 3:52326855 C / T
• gnomAD v2: 3-52326855-C-T
• gnomAD v4: 3-52292839-C-T
• COSMIC: COSM5697142
• MyVariant Identifiers: chr3:g.52326855C>T (hg19) ; chr3:g.52292839C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292839C>T , CM000665.2:g.52292839C>T	GRCh38
NC_000003.11:g.52326855C>T , CM000665.1:g.52326855C>T	GRCh37
NC_000003.10:g.52301895C>T	NCBI36
NG_023246.1:g.10020C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1285C>T MANE Select	ENSP00000389175.2:p.Arg429Cys
ENST00000305690.12:c.*404C>T	ENSP00000301965.9:n.*404C>T
ENST00000436784.6:c.1285C>T	ENSP00000389175.2:p.Arg429Cys
ENST00000461183.5:c.764-207C>T	ENSP00000417264.1:n.764-207C>T
ENST00000471180.5:c.635-207C>T	ENSP00000417526.1:n.635-207C>T
ENST00000473032.5:c.530-207C>T	ENSP00000418951.1:n.530-207C>T
ENST00000477382.1:c.*404C>T	ENSP00000419008.1:n.*404C>T
ENST00000486393.5:c.*648C>T	ENSP00000419868.1:n.*648C>T
ENST00000489173.1:n.1579C>T
NM_001144951.1:c.*404C>T	NP_001138423.1:n.*404C>T
NM_145262.3:c.1285C>T	NP_660305.2:p.Arg429Cys
NR_026699.1:n.1383C>T
NR_026700.1:n.696-207C>T
NR_026701.1:n.1381C>T
NR_026702.1:n.626-207C>T
XM_005264878.2:c.*404C>T	XP_005264935.1:n.*404C>T
XR_245095.2:n.2743-207C>T
XM_017005730.1:c.904C>T	XP_016861219.1:p.Arg302Cys
XM_024453351.1:c.1285C>T	XP_024309119.1:p.Arg429Cys
XM_024453352.1:c.*404C>T	XP_024309120.1:n.*404C>T
XR_001740022.2:n.3187C>T
XR_001740023.2:n.2918-207C>T
XR_245095.4:n.2744-207C>T
NM_145262.4:c.1285C>T MANE Select	NP_660305.2:p.Arg429Cys
NR_026699.2:n.1375C>T
NR_026700.2:n.688-207C>T
NR_026701.2:n.1373C>T
NR_026702.2:n.618-207C>T
NM_001144951.2:c.*404C>T	NP_001138423.1:n.*404C>T