Canonical Allele Identifier: CA2432320

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 1895780
• ClinVar RCV Id: RCV002571786 ; RCV004064308
• dbSNP Id: rs749904278
• ExAC: 3:52326978 G / A
• gnomAD v2: 3-52326978-G-A
• gnomAD v3: 3-52292962-G-A
• gnomAD v4: 3-52292962-G-A
• MyVariant Identifiers: chr3:g.52326978G>A (hg19) ; chr3:g.52292962G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292962G>A , CM000665.2:g.52292962G>A	GRCh38
NC_000003.11:g.52326978G>A , CM000665.1:g.52326978G>A	GRCh37
NC_000003.10:g.52302018G>A	NCBI36
NG_023246.1:g.10143G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1408G>A MANE Select	ENSP00000389175.2:p.Ala470Thr
ENST00000305690.12:c.*527G>A	ENSP00000301965.9:n.*527G>A
ENST00000436784.6:c.1408G>A	ENSP00000389175.2:p.Ala470Thr
ENST00000461183.5:c.764-84G>A	ENSP00000417264.1:n.764-84G>A
ENST00000471180.5:c.635-84G>A	ENSP00000417526.1:n.635-84G>A
ENST00000473032.5:c.530-84G>A	ENSP00000418951.1:n.530-84G>A
ENST00000477382.1:c.*527G>A	ENSP00000419008.1:n.*527G>A
ENST00000486393.5:c.*771G>A	ENSP00000419868.1:n.*771G>A
ENST00000489173.1:n.1702G>A
NM_001144951.1:c.*527G>A	NP_001138423.1:n.*527G>A
NM_145262.3:c.1408G>A	NP_660305.2:p.Ala470Thr
NR_026699.1:n.1506G>A
NR_026700.1:n.696-84G>A
NR_026701.1:n.1504G>A
NR_026702.1:n.626-84G>A
XM_005264878.2:c.*527G>A	XP_005264935.1:n.*527G>A
XR_245095.2:n.2743-84G>A
XM_017005730.1:c.1027G>A	XP_016861219.1:p.Ala343Thr
XM_024453351.1:c.1408G>A	XP_024309119.1:p.Ala470Thr
XM_024453352.1:c.*527G>A	XP_024309120.1:n.*527G>A
XR_001740022.2:n.3310G>A
XR_001740023.2:n.2918-84G>A
XR_245095.4:n.2744-84G>A
NM_145262.4:c.1408G>A MANE Select	NP_660305.2:p.Ala470Thr
NR_026699.2:n.1498G>A
NR_026700.2:n.688-84G>A
NR_026701.2:n.1496G>A
NR_026702.2:n.618-84G>A
NM_001144951.2:c.*527G>A	NP_001138423.1:n.*527G>A