Canonical Allele Identifier: CA353076431

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 2481186
• ClinVar RCV Id: RCV004270102
• dbSNP Id: rs763485712
• gnomAD v3: 3-52293023-A-T
• gnomAD v4: 3-52293023-A-T
• MyVariant Identifiers: chr3:g.52327039A>T (hg19) ; chr3:g.52293023A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293023A>T , CM000665.2:g.52293023A>T	GRCh38
NC_000003.11:g.52327039A>T , CM000665.1:g.52327039A>T	GRCh37
NC_000003.10:g.52302079A>T	NCBI36
NG_023246.1:g.10204A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1469A>T MANE Select	ENSP00000389175.2:p.His490Leu
ENST00000436784.6:c.1469A>T	ENSP00000389175.2:p.His490Leu
ENST00000461183.5:c.764-23A>T	ENSP00000417264.1:n.764-23A>T
ENST00000471180.5:c.635-23A>T	ENSP00000417526.1:n.635-23A>T
ENST00000473032.5:c.530-23A>T	ENSP00000418951.1:n.530-23A>T
ENST00000486393.5:c.*832A>T	ENSP00000419868.1:n.*832A>T
ENST00000489173.1:n.1763A>T
NM_145262.3:c.1469A>T	NP_660305.2:p.His490Leu
NR_026699.1:n.1567A>T
NR_026700.1:n.696-23A>T
NR_026701.1:n.1565A>T
NR_026702.1:n.626-23A>T
XM_005264878.2:c.*588A>T	XP_005264935.1:n.*588A>T
XR_245095.2:n.2743-23A>T
XM_017005730.1:c.1088A>T	XP_016861219.1:p.His363Leu
XM_024453351.1:c.1469A>T	XP_024309119.1:p.His490Leu
XM_024453352.1:c.*588A>T	XP_024309120.1:n.*588A>T
XR_001740022.2:n.3371A>T
XR_001740023.2:n.2918-23A>T
XR_245095.4:n.2744-23A>T
NM_145262.4:c.1469A>T MANE Select	NP_660305.2:p.His490Leu
NR_026699.2:n.1559A>T
NR_026700.2:n.688-23A>T
NR_026701.2:n.1557A>T
NR_026702.2:n.618-23A>T
NM_001144951.2:c.*588A>T	NP_001138423.1:n.*588A>T