Canonical Allele Identifier: CA353072982

Gene: GLYCTK

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292269C>T , CM000665.2:g.52292269C>T	GRCh38
NC_000003.11:g.52326285C>T , CM000665.1:g.52326285C>T	GRCh37
NC_000003.10:g.52301325C>T	NCBI36
NG_023246.1:g.9450C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_145262.4:c.715C>T MANE Select	NP_660305.2:p.Leu239Phe
ENST00000436784.7:c.715C>T MANE Select	ENSP00000389175.2:p.Leu239Phe
NM_001144951.1:c.539C>T	NP_001138423.1:p.Pro180Leu
NM_001144951.2:c.539C>T	NP_001138423.1:p.Pro180Leu
NM_145262.3:c.715C>T	NP_660305.2:p.Leu239Phe
NR_026699.1:n.813C>T
NR_026699.2:n.805C>T
NR_026700.1:n.395C>T
NR_026700.2:n.387C>T
NR_026701.1:n.811C>T
NR_026701.2:n.803C>T
NR_026702.1:n.626-777C>T
NR_026702.2:n.618-777C>T
ENST00000305690.12:c.539C>T	ENSP00000301965.9:p.Pro180Leu
ENST00000436784.6:c.715C>T	ENSP00000389175.2:p.Leu239Phe
ENST00000461183.5:c.463C>T	ENSP00000417264.1:p.Leu155Phe
ENST00000471180.5:c.334C>T	ENSP00000417526.1:p.Leu112Phe
ENST00000473032.5:c.530-777C>T	ENSP00000418951.1:n.530-777C>T
ENST00000473583.1:n.808C>T
ENST00000477382.1:c.539C>T	ENSP00000419008.1:p.Pro180Leu
ENST00000486393.5:c.*78C>T	ENSP00000419868.1:n.*78C>T
ENST00000489173.1:n.1009C>T
XM_005264878.2:c.539C>T	XP_005264935.1:p.Pro180Leu
XM_017005730.1:c.334C>T	XP_016861219.1:p.Leu112Phe
XM_024453351.1:c.715C>T	XP_024309119.1:p.Leu239Phe
XM_024453352.1:c.539C>T	XP_024309120.1:p.Pro180Leu
XR_001740022.2:n.2617C>T
XR_001740023.2:n.2617C>T
XR_245095.2:n.2442C>T
XR_245095.4:n.2443C>T