Canonical Allele Identifier: CA353076923

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1390221058
• gnomAD v2: 3-52327135-C-T
• gnomAD v4: 3-52293119-C-T
• MyVariant Identifiers: chr3:g.52327135C>T (hg19) ; chr3:g.52293119C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293119C>T , CM000665.2:g.52293119C>T	GRCh38
NC_000003.11:g.52327135C>T , CM000665.1:g.52327135C>T	GRCh37
NC_000003.10:g.52302175C>T	NCBI36
NG_023246.1:g.10300C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000436784.7:c.1565C>T MANE Select	ENSP00000389175.2:p.Pro522Leu
ENST00000436784.6:c.1565C>T	ENSP00000389175.2:p.Pro522Leu
ENST00000461183.5:c.837C>T	ENSP00000417264.1:p.Ala279=
ENST00000471180.5:c.708C>T	ENSP00000417526.1:p.Ala236=
ENST00000473032.5:c.603C>T	ENSP00000418951.1:p.Ala201=
ENST00000486393.5:c.*928C>T	ENSP00000419868.1:n.*928C>T
ENST00000489173.1:n.1859C>T
NM_145262.3:c.1565C>T	NP_660305.2:p.Pro522Leu
NR_026699.1:n.1663C>T
NR_026700.1:n.769C>T
NR_026701.1:n.1661C>T
NR_026702.1:n.699C>T
XM_005264878.2:c.*684C>T	XP_005264935.1:n.*684C>T
XR_245095.2:n.2816C>T
XM_017005730.1:c.1184C>T	XP_016861219.1:p.Pro395Leu
XM_024453351.1:c.1565C>T	XP_024309119.1:p.Pro522Leu
XM_024453352.1:c.*684C>T	XP_024309120.1:n.*684C>T
XR_001740022.2:n.3467C>T
XR_001740023.2:n.2991C>T
XR_245095.4:n.2817C>T
NM_145262.4:c.1565C>T MANE Select	NP_660305.2:p.Pro522Leu
NR_026699.2:n.1655C>T
NR_026700.2:n.761C>T
NR_026701.2:n.1653C>T
NR_026702.2:n.691C>T
NM_001144951.2:c.*684C>T	NP_001138423.1:n.*684C>T