Canonical Allele Identifier: CA2432199

Gene: GLYCTK

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292398C>T , CM000665.2:g.52292398C>T	GRCh38
NC_000003.11:g.52326414C>T , CM000665.1:g.52326414C>T	GRCh37
NC_000003.10:g.52301454C>T	NCBI36
NG_023246.1:g.9579C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_145262.4:c.844C>T MANE Select	NP_660305.2:p.Arg282Cys
ENST00000436784.7:c.844C>T MANE Select	ENSP00000389175.2:p.Arg282Cys
NM_001144951.1:c.668C>T	NP_001138423.1:p.Thr223Met
NM_001144951.2:c.668C>T	NP_001138423.1:p.Thr223Met
NM_145262.3:c.844C>T	NP_660305.2:p.Arg282Cys
NR_026699.1:n.942C>T
NR_026699.2:n.934C>T
NR_026700.1:n.524C>T
NR_026700.2:n.516C>T
NR_026701.1:n.940C>T
NR_026701.2:n.932C>T
NR_026702.1:n.626-648C>T
NR_026702.2:n.618-648C>T
ENST00000305690.12:c.668C>T	ENSP00000301965.9:p.Thr223Met
ENST00000436784.6:c.844C>T	ENSP00000389175.2:p.Arg282Cys
ENST00000461183.5:c.592C>T	ENSP00000417264.1:p.Arg198Cys
ENST00000471180.5:c.463C>T	ENSP00000417526.1:p.Arg155Cys
ENST00000473032.5:c.530-648C>T	ENSP00000418951.1:n.530-648C>T
ENST00000473583.1:n.937C>T
ENST00000477382.1:c.668C>T	ENSP00000419008.1:p.Thr223Met
ENST00000486393.5:c.*207C>T	ENSP00000419868.1:n.*207C>T
ENST00000489173.1:n.1138C>T
XM_005264878.2:c.668C>T	XP_005264935.1:p.Thr223Met
XM_017005730.1:c.463C>T	XP_016861219.1:p.Arg155Cys
XM_024453351.1:c.844C>T	XP_024309119.1:p.Arg282Cys
XM_024453352.1:c.668C>T	XP_024309120.1:p.Thr223Met
XR_001740022.2:n.2746C>T
XR_001740023.2:n.2746C>T
XR_245095.2:n.2571C>T
XR_245095.4:n.2572C>T