Canonical Allele Identifier: CA2432327

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 2622352
• ClinVar RCV Id: RCV004365806
• dbSNP Id: rs772013256
• ExAC: 3:52327003 T / C
• gnomAD v2: 3-52327003-T-C
• gnomAD v4: 3-52292987-T-C
• MyVariant Identifiers: chr3:g.52327003T>C (hg19) ; chr3:g.52292987T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292987T>C , CM000665.2:g.52292987T>C	GRCh38
NC_000003.11:g.52327003T>C , CM000665.1:g.52327003T>C	GRCh37
NC_000003.10:g.52302043T>C	NCBI36
NG_023246.1:g.10168T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1433T>C MANE Select	ENSP00000389175.2:p.Leu478Pro
ENST00000305690.12:c.*552T>C	ENSP00000301965.9:n.*552T>C
ENST00000436784.6:c.1433T>C	ENSP00000389175.2:p.Leu478Pro
ENST00000461183.5:c.764-59T>C	ENSP00000417264.1:n.764-59T>C
ENST00000471180.5:c.635-59T>C	ENSP00000417526.1:n.635-59T>C
ENST00000473032.5:c.530-59T>C	ENSP00000418951.1:n.530-59T>C
ENST00000477382.1:c.*552T>C	ENSP00000419008.1:n.*552T>C
ENST00000486393.5:c.*796T>C	ENSP00000419868.1:n.*796T>C
ENST00000489173.1:n.1727T>C
NM_001144951.1:c.*552T>C	NP_001138423.1:n.*552T>C
NM_145262.3:c.1433T>C	NP_660305.2:p.Leu478Pro
NR_026699.1:n.1531T>C
NR_026700.1:n.696-59T>C
NR_026701.1:n.1529T>C
NR_026702.1:n.626-59T>C
XM_005264878.2:c.*552T>C	XP_005264935.1:n.*552T>C
XR_245095.2:n.2743-59T>C
XM_017005730.1:c.1052T>C	XP_016861219.1:p.Leu351Pro
XM_024453351.1:c.1433T>C	XP_024309119.1:p.Leu478Pro
XM_024453352.1:c.*552T>C	XP_024309120.1:n.*552T>C
XR_001740022.2:n.3335T>C
XR_001740023.2:n.2918-59T>C
XR_245095.4:n.2744-59T>C
NM_145262.4:c.1433T>C MANE Select	NP_660305.2:p.Leu478Pro
NR_026699.2:n.1523T>C
NR_026700.2:n.688-59T>C
NR_026701.2:n.1521T>C
NR_026702.2:n.618-59T>C
NM_001144951.2:c.*552T>C	NP_001138423.1:n.*552T>C