Canonical Allele Identifier: CA353073573

Gene: GLYCTK

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292384G>A , CM000665.2:g.52292384G>A	GRCh38
NC_000003.11:g.52326400G>A , CM000665.1:g.52326400G>A	GRCh37
NC_000003.10:g.52301440G>A	NCBI36
NG_023246.1:g.9565G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_145262.4:c.830G>A MANE Select	NP_660305.2:p.Arg277His
ENST00000436784.7:c.830G>A MANE Select	ENSP00000389175.2:p.Arg277His
NM_001144951.1:c.654G>A	NP_001138423.1:p.Pro218=
NM_001144951.2:c.654G>A	NP_001138423.1:p.Pro218=
NM_145262.3:c.830G>A	NP_660305.2:p.Arg277His
NR_026699.1:n.928G>A
NR_026699.2:n.920G>A
NR_026700.1:n.510G>A
NR_026700.2:n.502G>A
NR_026701.1:n.926G>A
NR_026701.2:n.918G>A
NR_026702.1:n.626-662G>A
NR_026702.2:n.618-662G>A
ENST00000305690.12:c.654G>A	ENSP00000301965.9:p.Pro218=
ENST00000436784.6:c.830G>A	ENSP00000389175.2:p.Arg277His
ENST00000461183.5:c.578G>A	ENSP00000417264.1:p.Arg193His
ENST00000471180.5:c.449G>A	ENSP00000417526.1:p.Arg150His
ENST00000473032.5:c.530-662G>A	ENSP00000418951.1:n.530-662G>A
ENST00000473583.1:n.923G>A
ENST00000477382.1:c.654G>A	ENSP00000419008.1:p.Pro218=
ENST00000486393.5:c.*193G>A	ENSP00000419868.1:n.*193G>A
ENST00000489173.1:n.1124G>A
XM_005264878.2:c.654G>A	XP_005264935.1:p.Pro218=
XM_017005730.1:c.449G>A	XP_016861219.1:p.Arg150His
XM_024453351.1:c.830G>A	XP_024309119.1:p.Arg277His
XM_024453352.1:c.654G>A	XP_024309120.1:p.Pro218=
XR_001740022.2:n.2732G>A
XR_001740023.2:n.2732G>A
XR_245095.2:n.2557G>A
XR_245095.4:n.2558G>A