Canonical Allele Identifier: CA353073059

Gene: GLYCTK

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292283T>C , CM000665.2:g.52292283T>C	GRCh38
NC_000003.11:g.52326299T>C , CM000665.1:g.52326299T>C	GRCh37
NC_000003.10:g.52301339T>C	NCBI36
NG_023246.1:g.9464T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.729T>C MANE Select	ENSP00000389175.2:p.Asp243=
ENST00000305690.12:c.553T>C	ENSP00000301965.9:p.Cys185Arg
ENST00000436784.6:c.729T>C	ENSP00000389175.2:p.Asp243=
ENST00000461183.5:c.477T>C	ENSP00000417264.1:p.Asp159=
ENST00000471180.5:c.348T>C	ENSP00000417526.1:p.Asp116=
ENST00000473032.5:c.530-763T>C	ENSP00000418951.1:n.530-763T>C
ENST00000473583.1:n.822T>C
ENST00000477382.1:c.553T>C	ENSP00000419008.1:p.Cys185Arg
ENST00000486393.5:c.*92T>C	ENSP00000419868.1:n.*92T>C
ENST00000489173.1:n.1023T>C
NM_001144951.1:c.553T>C	NP_001138423.1:p.Cys185Arg
NM_145262.3:c.729T>C	NP_660305.2:p.Asp243=
NR_026699.1:n.827T>C
NR_026700.1:n.409T>C
NR_026701.1:n.825T>C
NR_026702.1:n.626-763T>C
XM_005264878.2:c.553T>C	XP_005264935.1:p.Cys185Arg
XR_245095.2:n.2456T>C
XM_017005730.1:c.348T>C	XP_016861219.1:p.Asp116=
XM_024453351.1:c.729T>C	XP_024309119.1:p.Asp243=
XM_024453352.1:c.553T>C	XP_024309120.1:p.Cys185Arg
XR_001740022.2:n.2631T>C
XR_001740023.2:n.2631T>C
XR_245095.4:n.2457T>C
NM_145262.4:c.729T>C MANE Select	NP_660305.2:p.Asp243=
NR_026699.2:n.819T>C
NR_026700.2:n.401T>C
NR_026701.2:n.817T>C
NR_026702.2:n.618-763T>C
NM_001144951.2:c.553T>C	NP_001138423.1:p.Cys185Arg