Canonical Allele Identifier: CA2432293

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 2524924
• ClinVar RCV Id: RCV004298199
• dbSNP Id: rs760946607
• ExAC: 3:52326877 G / T
• gnomAD v3: 3-52292861-G-T
• gnomAD v4: 3-52292861-G-T
• MyVariant Identifiers: chr3:g.52326877G>T (hg19) ; chr3:g.52292861G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292861G>T , CM000665.2:g.52292861G>T	GRCh38
NC_000003.11:g.52326877G>T , CM000665.1:g.52326877G>T	GRCh37
NC_000003.10:g.52301917G>T	NCBI36
NG_023246.1:g.10042G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1307G>T MANE Select	ENSP00000389175.2:p.Arg436Met
ENST00000305690.12:c.*426G>T	ENSP00000301965.9:n.*426G>T
ENST00000436784.6:c.1307G>T	ENSP00000389175.2:p.Arg436Met
ENST00000461183.5:c.764-185G>T	ENSP00000417264.1:n.764-185G>T
ENST00000471180.5:c.635-185G>T	ENSP00000417526.1:n.635-185G>T
ENST00000473032.5:c.530-185G>T	ENSP00000418951.1:n.530-185G>T
ENST00000477382.1:c.*426G>T	ENSP00000419008.1:n.*426G>T
ENST00000486393.5:c.*670G>T	ENSP00000419868.1:n.*670G>T
ENST00000489173.1:n.1601G>T
NM_001144951.1:c.*426G>T	NP_001138423.1:n.*426G>T
NM_145262.3:c.1307G>T	NP_660305.2:p.Arg436Met
NR_026699.1:n.1405G>T
NR_026700.1:n.696-185G>T
NR_026701.1:n.1403G>T
NR_026702.1:n.626-185G>T
XM_005264878.2:c.*426G>T	XP_005264935.1:n.*426G>T
XR_245095.2:n.2743-185G>T
XM_017005730.1:c.926G>T	XP_016861219.1:p.Arg309Met
XM_024453351.1:c.1307G>T	XP_024309119.1:p.Arg436Met
XM_024453352.1:c.*426G>T	XP_024309120.1:n.*426G>T
XR_001740022.2:n.3209G>T
XR_001740023.2:n.2918-185G>T
XR_245095.4:n.2744-185G>T
NM_145262.4:c.1307G>T MANE Select	NP_660305.2:p.Arg436Met
NR_026699.2:n.1397G>T
NR_026700.2:n.688-185G>T
NR_026701.2:n.1395G>T
NR_026702.2:n.618-185G>T
NM_001144951.2:c.*426G>T	NP_001138423.1:n.*426G>T