Canonical Allele Identifier: CA353076637

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 1717658
• ClinVar RCV Id: RCV002297683
• gnomAD v4: 3-52293068-C-G
• MyVariant Identifiers: chr3:g.52327084C>G (hg19) ; chr3:g.52293068C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293068C>G , CM000665.2:g.52293068C>G	GRCh38
NC_000003.11:g.52327084C>G , CM000665.1:g.52327084C>G	GRCh37
NC_000003.10:g.52302124C>G	NCBI36
NG_023246.1:g.10249C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1514C>G MANE Select	ENSP00000389175.2:p.Thr505Arg
ENST00000436784.6:c.1514C>G	ENSP00000389175.2:p.Thr505Arg
ENST00000461183.5:c.786C>G	ENSP00000417264.1:p.His262Gln
ENST00000471180.5:c.657C>G	ENSP00000417526.1:p.His219Gln
ENST00000473032.5:c.552C>G	ENSP00000418951.1:p.His184Gln
ENST00000486393.5:c.*877C>G	ENSP00000419868.1:n.*877C>G
ENST00000489173.1:n.1808C>G
NM_145262.3:c.1514C>G	NP_660305.2:p.Thr505Arg
NR_026699.1:n.1612C>G
NR_026700.1:n.718C>G
NR_026701.1:n.1610C>G
NR_026702.1:n.648C>G
XM_005264878.2:c.*633C>G	XP_005264935.1:n.*633C>G
XR_245095.2:n.2765C>G
XM_017005730.1:c.1133C>G	XP_016861219.1:p.Thr378Arg
XM_024453351.1:c.1514C>G	XP_024309119.1:p.Thr505Arg
XM_024453352.1:c.*633C>G	XP_024309120.1:n.*633C>G
XR_001740022.2:n.3416C>G
XR_001740023.2:n.2940C>G
XR_245095.4:n.2766C>G
NM_145262.4:c.1514C>G MANE Select	NP_660305.2:p.Thr505Arg
NR_026699.2:n.1604C>G
NR_026700.2:n.710C>G
NR_026701.2:n.1602C>G
NR_026702.2:n.640C>G
NM_001144951.2:c.*633C>G	NP_001138423.1:n.*633C>G