Canonical Allele Identifier: CA2432322

Gene: GLYCTK

Linked Data

• dbSNP Id: rs779596586
• ExAC: 3:52326993 G / A
• gnomAD v2: 3-52326993-G-A
• gnomAD v3: 3-52292977-G-A
• gnomAD v4: 3-52292977-G-A
• MyVariant Identifiers: chr3:g.52326993G>A (hg19) ; chr3:g.52292977G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292977G>A , CM000665.2:g.52292977G>A	GRCh38
NC_000003.11:g.52326993G>A , CM000665.1:g.52326993G>A	GRCh37
NC_000003.10:g.52302033G>A	NCBI36
NG_023246.1:g.10158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1423G>A MANE Select	ENSP00000389175.2:p.Ala475Thr
ENST00000305690.12:c.*542G>A	ENSP00000301965.9:n.*542G>A
ENST00000436784.6:c.1423G>A	ENSP00000389175.2:p.Ala475Thr
ENST00000461183.5:c.764-69G>A	ENSP00000417264.1:n.764-69G>A
ENST00000471180.5:c.635-69G>A	ENSP00000417526.1:n.635-69G>A
ENST00000473032.5:c.530-69G>A	ENSP00000418951.1:n.530-69G>A
ENST00000477382.1:c.*542G>A	ENSP00000419008.1:n.*542G>A
ENST00000486393.5:c.*786G>A	ENSP00000419868.1:n.*786G>A
ENST00000489173.1:n.1717G>A
NM_001144951.1:c.*542G>A	NP_001138423.1:n.*542G>A
NM_145262.3:c.1423G>A	NP_660305.2:p.Ala475Thr
NR_026699.1:n.1521G>A
NR_026700.1:n.696-69G>A
NR_026701.1:n.1519G>A
NR_026702.1:n.626-69G>A
XM_005264878.2:c.*542G>A	XP_005264935.1:n.*542G>A
XR_245095.2:n.2743-69G>A
XM_017005730.1:c.1042G>A	XP_016861219.1:p.Ala348Thr
XM_024453351.1:c.1423G>A	XP_024309119.1:p.Ala475Thr
XM_024453352.1:c.*542G>A	XP_024309120.1:n.*542G>A
XR_001740022.2:n.3325G>A
XR_001740023.2:n.2918-69G>A
XR_245095.4:n.2744-69G>A
NM_145262.4:c.1423G>A MANE Select	NP_660305.2:p.Ala475Thr
NR_026699.2:n.1513G>A
NR_026700.2:n.688-69G>A
NR_026701.2:n.1511G>A
NR_026702.2:n.618-69G>A
NM_001144951.2:c.*542G>A	NP_001138423.1:n.*542G>A