Canonical Allele Identifier: CA2432242

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 2985242
• ClinVar RCV Id: RCV003848369
• dbSNP Id: rs542433680
• ExAC: 3:52326614 C / T
• gnomAD v2: 3-52326614-C-T
• gnomAD v3: 3-52292598-C-T
• gnomAD v4: 3-52292598-C-T
• MyVariant Identifiers: chr3:g.52326614C>T (hg19) ; chr3:g.52292598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292598C>T , CM000665.2:g.52292598C>T	GRCh38
NC_000003.11:g.52326614C>T , CM000665.1:g.52326614C>T	GRCh37
NC_000003.10:g.52301654C>T	NCBI36
NG_023246.1:g.9779C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1044C>T MANE Select	ENSP00000389175.2:p.Tyr348=
ENST00000305690.12:c.*163C>T	ENSP00000301965.9:n.*163C>T
ENST00000436784.6:c.1044C>T	ENSP00000389175.2:p.Tyr348=
ENST00000461183.5:c.763+29C>T	ENSP00000417264.1:n.763+29C>T
ENST00000471180.5:c.634+29C>T	ENSP00000417526.1:n.634+29C>T
ENST00000473032.5:c.530-448C>T	ENSP00000418951.1:n.530-448C>T
ENST00000477382.1:c.*163C>T	ENSP00000419008.1:n.*163C>T
ENST00000486393.5:c.*407C>T	ENSP00000419868.1:n.*407C>T
ENST00000489173.1:n.1338C>T
NM_001144951.1:c.*163C>T	NP_001138423.1:n.*163C>T
NM_145262.3:c.1044C>T	NP_660305.2:p.Tyr348=
NR_026699.1:n.1142C>T
NR_026700.1:n.695+29C>T
NR_026701.1:n.1140C>T
NR_026702.1:n.626-448C>T
XM_005264878.2:c.*163C>T	XP_005264935.1:n.*163C>T
XR_245095.2:n.2742+29C>T
XM_017005730.1:c.663C>T	XP_016861219.1:p.Tyr221=
XM_024453351.1:c.1044C>T	XP_024309119.1:p.Tyr348=
XM_024453352.1:c.*163C>T	XP_024309120.1:n.*163C>T
XR_001740022.2:n.2946C>T
XR_001740023.2:n.2917+29C>T
XR_245095.4:n.2743+29C>T
NM_145262.4:c.1044C>T MANE Select	NP_660305.2:p.Tyr348=
NR_026699.2:n.1134C>T
NR_026700.2:n.687+29C>T
NR_026701.2:n.1132C>T
NR_026702.2:n.618-448C>T
NM_001144951.2:c.*163C>T	NP_001138423.1:n.*163C>T