Canonical Allele Identifier: CA353076715

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1489812236
• gnomAD v2: 3-52327099-C-T
• gnomAD v4: 3-52293083-C-T
• MyVariant Identifiers: chr3:g.52327099C>T (hg19) ; chr3:g.52293083C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293083C>T , CM000665.2:g.52293083C>T	GRCh38
NC_000003.11:g.52327099C>T , CM000665.1:g.52327099C>T	GRCh37
NC_000003.10:g.52302139C>T	NCBI36
NG_023246.1:g.10264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1529C>T MANE Select	ENSP00000389175.2:p.Thr510Ile
ENST00000436784.6:c.1529C>T	ENSP00000389175.2:p.Thr510Ile
ENST00000461183.5:c.801C>T	ENSP00000417264.1:p.Tyr267=
ENST00000471180.5:c.672C>T	ENSP00000417526.1:p.Tyr224=
ENST00000473032.5:c.567C>T	ENSP00000418951.1:p.Tyr189=
ENST00000486393.5:c.*892C>T	ENSP00000419868.1:n.*892C>T
ENST00000489173.1:n.1823C>T
NM_145262.3:c.1529C>T	NP_660305.2:p.Thr510Ile
NR_026699.1:n.1627C>T
NR_026700.1:n.733C>T
NR_026701.1:n.1625C>T
NR_026702.1:n.663C>T
XM_005264878.2:c.*648C>T	XP_005264935.1:n.*648C>T
XR_245095.2:n.2780C>T
XM_017005730.1:c.1148C>T	XP_016861219.1:p.Thr383Ile
XM_024453351.1:c.1529C>T	XP_024309119.1:p.Thr510Ile
XM_024453352.1:c.*648C>T	XP_024309120.1:n.*648C>T
XR_001740022.2:n.3431C>T
XR_001740023.2:n.2955C>T
XR_245095.4:n.2781C>T
NM_145262.4:c.1529C>T MANE Select	NP_660305.2:p.Thr510Ile
NR_026699.2:n.1619C>T
NR_026700.2:n.725C>T
NR_026701.2:n.1617C>T
NR_026702.2:n.655C>T
NM_001144951.2:c.*648C>T	NP_001138423.1:n.*648C>T