Canonical Allele Identifier: CA2432088

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 522974
• ClinVar RCV Id: RCV000626172 ; RCV000906954
• dbSNP Id: rs199906865
• ExAC: 3:52325055 C / T
• gnomAD v2: 3-52325055-C-T
• gnomAD v3: 3-52291039-C-T
• gnomAD v4: 3-52291039-C-T
• COSMIC: COSM4118979
• MyVariant Identifiers: chr3:g.52325055C>T (hg19) ; chr3:g.52291039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52291039C>T , CM000665.2:g.52291039C>T	GRCh38
NC_000003.11:g.52325055C>T , CM000665.1:g.52325055C>T	GRCh37
NC_000003.10:g.52300095C>T	NCBI36
NG_023246.1:g.8220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.457C>T MANE Select	ENSP00000389175.2:p.Arg153Trp
ENST00000305690.12:c.457C>T	ENSP00000301965.9:p.Arg153Trp
ENST00000436784.6:c.457C>T	ENSP00000389175.2:p.Arg153Trp
ENST00000461183.5:c.205C>T	ENSP00000417264.1:p.Arg69Trp
ENST00000471180.5:c.76C>T	ENSP00000417526.1:p.Arg26Trp
ENST00000473032.5:c.457C>T	ENSP00000418951.1:p.Arg153Trp
ENST00000473583.1:n.726C>T
ENST00000477382.1:c.457C>T	ENSP00000419008.1:p.Arg153Trp
ENST00000486393.5:c.457C>T	ENSP00000419868.1:p.Arg153Trp
ENST00000489173.1:n.116C>T
NM_001144951.1:c.457C>T	NP_001138423.1:p.Arg153Trp
NM_145262.3:c.457C>T	NP_660305.2:p.Arg153Trp
NR_026699.1:n.553C>T
NR_026700.1:n.137C>T
NR_026701.1:n.553C>T
NR_026702.1:n.553C>T
XM_005264878.2:c.457C>T	XP_005264935.1:p.Arg153Trp
XR_245095.2:n.2360C>T
XM_017005730.1:c.76C>T	XP_016861219.1:p.Arg26Trp
XM_024453351.1:c.457C>T	XP_024309119.1:p.Arg153Trp
XM_024453352.1:c.457C>T	XP_024309120.1:p.Arg153Trp
XR_001740022.2:n.2359C>T
XR_001740023.2:n.2359C>T
XR_245095.4:n.2361C>T
NM_145262.4:c.457C>T MANE Select	NP_660305.2:p.Arg153Trp
NR_026699.2:n.545C>T
NR_026700.2:n.129C>T
NR_026701.2:n.545C>T
NR_026702.2:n.545C>T
NM_001144951.2:c.457C>T	NP_001138423.1:p.Arg153Trp