Canonical Allele Identifier: CA2432329

Gene: GLYCTK

Linked Data

• dbSNP Id: rs747079334
• ExAC: 3:52327026 C / T
• gnomAD v3: 3-52293010-C-T
• gnomAD v4: 3-52293010-C-T
• MyVariant Identifiers: chr3:g.52327026C>T (hg19) ; chr3:g.52293010C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293010C>T , CM000665.2:g.52293010C>T	GRCh38
NC_000003.11:g.52327026C>T , CM000665.1:g.52327026C>T	GRCh37
NC_000003.10:g.52302066C>T	NCBI36
NG_023246.1:g.10191C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000436784.7:c.1456C>T MANE Select	ENSP00000389175.2:p.His486Tyr
ENST00000436784.6:c.1456C>T	ENSP00000389175.2:p.His486Tyr
ENST00000461183.5:c.764-36C>T	ENSP00000417264.1:n.764-36C>T
ENST00000471180.5:c.635-36C>T	ENSP00000417526.1:n.635-36C>T
ENST00000473032.5:c.530-36C>T	ENSP00000418951.1:n.530-36C>T
ENST00000486393.5:c.*819C>T	ENSP00000419868.1:n.*819C>T
ENST00000489173.1:n.1750C>T
NM_145262.3:c.1456C>T	NP_660305.2:p.His486Tyr
NR_026699.1:n.1554C>T
NR_026700.1:n.696-36C>T
NR_026701.1:n.1552C>T
NR_026702.1:n.626-36C>T
XM_005264878.2:c.*575C>T	XP_005264935.1:n.*575C>T
XR_245095.2:n.2743-36C>T
XM_017005730.1:c.1075C>T	XP_016861219.1:p.His359Tyr
XM_024453351.1:c.1456C>T	XP_024309119.1:p.His486Tyr
XM_024453352.1:c.*575C>T	XP_024309120.1:n.*575C>T
XR_001740022.2:n.3358C>T
XR_001740023.2:n.2918-36C>T
XR_245095.4:n.2744-36C>T
NM_145262.4:c.1456C>T MANE Select	NP_660305.2:p.His486Tyr
NR_026699.2:n.1546C>T
NR_026700.2:n.688-36C>T
NR_026701.2:n.1544C>T
NR_026702.2:n.618-36C>T
NM_001144951.2:c.*575C>T	NP_001138423.1:n.*575C>T