Canonical Allele Identifier: CA353075357

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1428215511
• gnomAD v2: 3-52326729-C-T
• gnomAD v4: 3-52292713-C-T
• MyVariant Identifiers: chr3:g.52326729C>T (hg19) ; chr3:g.52292713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292713C>T , CM000665.2:g.52292713C>T	GRCh38
NC_000003.11:g.52326729C>T , CM000665.1:g.52326729C>T	GRCh37
NC_000003.10:g.52301769C>T	NCBI36
NG_023246.1:g.9894C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1159C>T MANE Select	ENSP00000389175.2:p.Gln387Ter
ENST00000305690.12:c.*278C>T	ENSP00000301965.9:n.*278C>T
ENST00000436784.6:c.1159C>T	ENSP00000389175.2:p.Gln387Ter
ENST00000461183.5:c.763+144C>T	ENSP00000417264.1:n.763+144C>T
ENST00000471180.5:c.634+144C>T	ENSP00000417526.1:n.634+144C>T
ENST00000473032.5:c.530-333C>T	ENSP00000418951.1:n.530-333C>T
ENST00000477382.1:c.*278C>T	ENSP00000419008.1:n.*278C>T
ENST00000486393.5:c.*522C>T	ENSP00000419868.1:n.*522C>T
ENST00000489173.1:n.1453C>T
NM_001144951.1:c.*278C>T	NP_001138423.1:n.*278C>T
NM_145262.3:c.1159C>T	NP_660305.2:p.Gln387Ter
NR_026699.1:n.1257C>T
NR_026700.1:n.695+144C>T
NR_026701.1:n.1255C>T
NR_026702.1:n.626-333C>T
XM_005264878.2:c.*278C>T	XP_005264935.1:n.*278C>T
XR_245095.2:n.2742+144C>T
XM_017005730.1:c.778C>T	XP_016861219.1:p.Gln260Ter
XM_024453351.1:c.1159C>T	XP_024309119.1:p.Gln387Ter
XM_024453352.1:c.*278C>T	XP_024309120.1:n.*278C>T
XR_001740022.2:n.3061C>T
XR_001740023.2:n.2917+144C>T
XR_245095.4:n.2743+144C>T
NM_145262.4:c.1159C>T MANE Select	NP_660305.2:p.Gln387Ter
NR_026699.2:n.1249C>T
NR_026700.2:n.687+144C>T
NR_026701.2:n.1247C>T
NR_026702.2:n.618-333C>T
NM_001144951.2:c.*278C>T	NP_001138423.1:n.*278C>T