Canonical Allele Identifier: CA2432318

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 2071228
• ClinVar RCV Id: RCV002975418 ; RCV003936462
• dbSNP Id: rs145897189
• ExAC: 3:52326967 C / T
• gnomAD v2: 3-52326967-C-T
• gnomAD v3: 3-52292951-C-T
• gnomAD v4: 3-52292951-C-T
• MyVariant Identifiers: chr3:g.52326967C>T (hg19) ; chr3:g.52292951C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292951C>T , CM000665.2:g.52292951C>T	GRCh38
NC_000003.11:g.52326967C>T , CM000665.1:g.52326967C>T	GRCh37
NC_000003.10:g.52302007C>T	NCBI36
NG_023246.1:g.10132C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000436784.7:c.1397C>T MANE Select	ENSP00000389175.2:p.Thr466Ile
ENST00000305690.12:c.*516C>T	ENSP00000301965.9:n.*516C>T
ENST00000436784.6:c.1397C>T	ENSP00000389175.2:p.Thr466Ile
ENST00000461183.5:c.764-95C>T	ENSP00000417264.1:n.764-95C>T
ENST00000471180.5:c.635-95C>T	ENSP00000417526.1:n.635-95C>T
ENST00000473032.5:c.530-95C>T	ENSP00000418951.1:n.530-95C>T
ENST00000477382.1:c.*516C>T	ENSP00000419008.1:n.*516C>T
ENST00000486393.5:c.*760C>T	ENSP00000419868.1:n.*760C>T
ENST00000489173.1:n.1691C>T
NM_001144951.1:c.*516C>T	NP_001138423.1:n.*516C>T
NM_145262.3:c.1397C>T	NP_660305.2:p.Thr466Ile
NR_026699.1:n.1495C>T
NR_026700.1:n.696-95C>T
NR_026701.1:n.1493C>T
NR_026702.1:n.626-95C>T
XM_005264878.2:c.*516C>T	XP_005264935.1:n.*516C>T
XR_245095.2:n.2743-95C>T
XM_017005730.1:c.1016C>T	XP_016861219.1:p.Thr339Ile
XM_024453351.1:c.1397C>T	XP_024309119.1:p.Thr466Ile
XM_024453352.1:c.*516C>T	XP_024309120.1:n.*516C>T
XR_001740022.2:n.3299C>T
XR_001740023.2:n.2918-95C>T
XR_245095.4:n.2744-95C>T
NM_145262.4:c.1397C>T MANE Select	NP_660305.2:p.Thr466Ile
NR_026699.2:n.1487C>T
NR_026700.2:n.688-95C>T
NR_026701.2:n.1485C>T
NR_026702.2:n.618-95C>T
NM_001144951.2:c.*516C>T	NP_001138423.1:n.*516C>T