Canonical Allele Identifier: CA353076793

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 3100430
• ClinVar RCV Id: RCV004393327
• MyVariant Identifiers: chr3:g.52327113A>T (hg19) ; chr3:g.52293097A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293097A>T , CM000665.2:g.52293097A>T	GRCh38
NC_000003.11:g.52327113A>T , CM000665.1:g.52327113A>T	GRCh37
NC_000003.10:g.52302153A>T	NCBI36
NG_023246.1:g.10278A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1543A>T MANE Select	ENSP00000389175.2:p.Thr515Ser
ENST00000436784.6:c.1543A>T	ENSP00000389175.2:p.Thr515Ser
ENST00000461183.5:c.815A>T	ENSP00000417264.1:p.His272Leu
ENST00000471180.5:c.686A>T	ENSP00000417526.1:p.His229Leu
ENST00000473032.5:c.581A>T	ENSP00000418951.1:p.His194Leu
ENST00000486393.5:c.*906A>T	ENSP00000419868.1:n.*906A>T
ENST00000489173.1:n.1837A>T
NM_145262.3:c.1543A>T	NP_660305.2:p.Thr515Ser
NR_026699.1:n.1641A>T
NR_026700.1:n.747A>T
NR_026701.1:n.1639A>T
NR_026702.1:n.677A>T
XM_005264878.2:c.*662A>T	XP_005264935.1:n.*662A>T
XR_245095.2:n.2794A>T
XM_017005730.1:c.1162A>T	XP_016861219.1:p.Thr388Ser
XM_024453351.1:c.1543A>T	XP_024309119.1:p.Thr515Ser
XM_024453352.1:c.*662A>T	XP_024309120.1:n.*662A>T
XR_001740022.2:n.3445A>T
XR_001740023.2:n.2969A>T
XR_245095.4:n.2795A>T
NM_145262.4:c.1543A>T MANE Select	NP_660305.2:p.Thr515Ser
NR_026699.2:n.1633A>T
NR_026700.2:n.739A>T
NR_026701.2:n.1631A>T
NR_026702.2:n.669A>T
NM_001144951.2:c.*662A>T	NP_001138423.1:n.*662A>T