Canonical Allele Identifier: CA353076831

Gene: GLYCTK

Linked Data

• MyVariant Identifiers: chr3:g.52327120T>G (hg19) ; chr3:g.52293104T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293104T>G , CM000665.2:g.52293104T>G	GRCh38
NC_000003.11:g.52327120T>G , CM000665.1:g.52327120T>G	GRCh37
NC_000003.10:g.52302160T>G	NCBI36
NG_023246.1:g.10285T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1550T>G MANE Select	ENSP00000389175.2:p.Leu517Arg
ENST00000436784.6:c.1550T>G	ENSP00000389175.2:p.Leu517Arg
ENST00000461183.5:c.822T>G	ENSP00000417264.1:p.Pro274=
ENST00000471180.5:c.693T>G	ENSP00000417526.1:p.Pro231=
ENST00000473032.5:c.588T>G	ENSP00000418951.1:p.Pro196=
ENST00000486393.5:c.*913T>G	ENSP00000419868.1:n.*913T>G
ENST00000489173.1:n.1844T>G
NM_145262.3:c.1550T>G	NP_660305.2:p.Leu517Arg
NR_026699.1:n.1648T>G
NR_026700.1:n.754T>G
NR_026701.1:n.1646T>G
NR_026702.1:n.684T>G
XM_005264878.2:c.*669T>G	XP_005264935.1:n.*669T>G
XR_245095.2:n.2801T>G
XM_017005730.1:c.1169T>G	XP_016861219.1:p.Leu390Arg
XM_024453351.1:c.1550T>G	XP_024309119.1:p.Leu517Arg
XM_024453352.1:c.*669T>G	XP_024309120.1:n.*669T>G
XR_001740022.2:n.3452T>G
XR_001740023.2:n.2976T>G
XR_245095.4:n.2802T>G
NM_145262.4:c.1550T>G MANE Select	NP_660305.2:p.Leu517Arg
NR_026699.2:n.1640T>G
NR_026700.2:n.746T>G
NR_026701.2:n.1638T>G
NR_026702.2:n.676T>G
NM_001144951.2:c.*669T>G	NP_001138423.1:n.*669T>G