Canonical Allele Identifier: CA2432357

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 2084751
• ClinVar RCV Id: RCV003011296
• dbSNP Id: rs753363748
• ExAC: 3:52327138 G / A
• gnomAD v2: 3-52327138-G-A
• gnomAD v3: 3-52293122-G-A
• gnomAD v4: 3-52293122-G-A
• MyVariant Identifiers: chr3:g.52327138G>A (hg19) ; chr3:g.52293122G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293122G>A , CM000665.2:g.52293122G>A	GRCh38
NC_000003.11:g.52327138G>A , CM000665.1:g.52327138G>A	GRCh37
NC_000003.10:g.52302178G>A	NCBI36
NG_023246.1:g.10303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1568G>A MANE Select	ENSP00000389175.2:p.Arg523Gln
ENST00000436784.6:c.1568G>A	ENSP00000389175.2:p.Arg523Gln
ENST00000461183.5:c.840G>A	ENSP00000417264.1:p.Ser280=
ENST00000471180.5:c.711G>A	ENSP00000417526.1:p.Ser237=
ENST00000473032.5:c.606G>A	ENSP00000418951.1:p.Ser202=
ENST00000486393.5:c.*931G>A	ENSP00000419868.1:n.*931G>A
ENST00000489173.1:n.1862G>A
NM_145262.3:c.1568G>A	NP_660305.2:p.Arg523Gln
NR_026699.1:n.1666G>A
NR_026700.1:n.772G>A
NR_026701.1:n.1664G>A
NR_026702.1:n.702G>A
XM_005264878.2:c.*687G>A	XP_005264935.1:n.*687G>A
XR_245095.2:n.2819G>A
XM_017005730.1:c.1187G>A	XP_016861219.1:p.Arg396Gln
XM_024453351.1:c.1568G>A	XP_024309119.1:p.Arg523Gln
XM_024453352.1:c.*687G>A	XP_024309120.1:n.*687G>A
XR_001740022.2:n.3470G>A
XR_001740023.2:n.2994G>A
XR_245095.4:n.2820G>A
NM_145262.4:c.1568G>A MANE Select	NP_660305.2:p.Arg523Gln
NR_026699.2:n.1658G>A
NR_026700.2:n.764G>A
NR_026701.2:n.1656G>A
NR_026702.2:n.694G>A
NM_001144951.2:c.*687G>A	NP_001138423.1:n.*687G>A