Canonical Allele Identifier: CA353075201

Gene: GLYCTK

Linked Data

• MyVariant Identifiers: chr3:g.52326690C>T (hg19) ; chr3:g.52292674C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292674C>T , CM000665.2:g.52292674C>T	GRCh38
NC_000003.11:g.52326690C>T , CM000665.1:g.52326690C>T	GRCh37
NC_000003.10:g.52301730C>T	NCBI36
NG_023246.1:g.9855C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1120C>T MANE Select	ENSP00000389175.2:p.Leu374Phe
ENST00000305690.12:c.*239C>T	ENSP00000301965.9:n.*239C>T
ENST00000436784.6:c.1120C>T	ENSP00000389175.2:p.Leu374Phe
ENST00000461183.5:c.763+105C>T	ENSP00000417264.1:n.763+105C>T
ENST00000471180.5:c.634+105C>T	ENSP00000417526.1:n.634+105C>T
ENST00000473032.5:c.530-372C>T	ENSP00000418951.1:n.530-372C>T
ENST00000477382.1:c.*239C>T	ENSP00000419008.1:n.*239C>T
ENST00000486393.5:c.*483C>T	ENSP00000419868.1:n.*483C>T
ENST00000489173.1:n.1414C>T
NM_001144951.1:c.*239C>T	NP_001138423.1:n.*239C>T
NM_145262.3:c.1120C>T	NP_660305.2:p.Leu374Phe
NR_026699.1:n.1218C>T
NR_026700.1:n.695+105C>T
NR_026701.1:n.1216C>T
NR_026702.1:n.626-372C>T
XM_005264878.2:c.*239C>T	XP_005264935.1:n.*239C>T
XR_245095.2:n.2742+105C>T
XM_017005730.1:c.739C>T	XP_016861219.1:p.Leu247Phe
XM_024453351.1:c.1120C>T	XP_024309119.1:p.Leu374Phe
XM_024453352.1:c.*239C>T	XP_024309120.1:n.*239C>T
XR_001740022.2:n.3022C>T
XR_001740023.2:n.2917+105C>T
XR_245095.4:n.2743+105C>T
NM_145262.4:c.1120C>T MANE Select	NP_660305.2:p.Leu374Phe
NR_026699.2:n.1210C>T
NR_026700.2:n.687+105C>T
NR_026701.2:n.1208C>T
NR_026702.2:n.618-372C>T
NM_001144951.2:c.*239C>T	NP_001138423.1:n.*239C>T