Canonical Allele Identifier: CA353075350

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 1478772
• ClinVar RCV Id: RCV001990773
• dbSNP Id: rs2153221153
• MyVariant Identifiers: chr3:g.52326727T>G (hg19) ; chr3:g.52292711T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292711T>G , CM000665.2:g.52292711T>G	GRCh38
NC_000003.11:g.52326727T>G , CM000665.1:g.52326727T>G	GRCh37
NC_000003.10:g.52301767T>G	NCBI36
NG_023246.1:g.9892T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1157T>G MANE Select	ENSP00000389175.2:p.Leu386Arg
ENST00000305690.12:c.*276T>G	ENSP00000301965.9:n.*276T>G
ENST00000436784.6:c.1157T>G	ENSP00000389175.2:p.Leu386Arg
ENST00000461183.5:c.763+142T>G	ENSP00000417264.1:n.763+142T>G
ENST00000471180.5:c.634+142T>G	ENSP00000417526.1:n.634+142T>G
ENST00000473032.5:c.530-335T>G	ENSP00000418951.1:n.530-335T>G
ENST00000477382.1:c.*276T>G	ENSP00000419008.1:n.*276T>G
ENST00000486393.5:c.*520T>G	ENSP00000419868.1:n.*520T>G
ENST00000489173.1:n.1451T>G
NM_001144951.1:c.*276T>G	NP_001138423.1:n.*276T>G
NM_145262.3:c.1157T>G	NP_660305.2:p.Leu386Arg
NR_026699.1:n.1255T>G
NR_026700.1:n.695+142T>G
NR_026701.1:n.1253T>G
NR_026702.1:n.626-335T>G
XM_005264878.2:c.*276T>G	XP_005264935.1:n.*276T>G
XR_245095.2:n.2742+142T>G
XM_017005730.1:c.776T>G	XP_016861219.1:p.Leu259Arg
XM_024453351.1:c.1157T>G	XP_024309119.1:p.Leu386Arg
XM_024453352.1:c.*276T>G	XP_024309120.1:n.*276T>G
XR_001740022.2:n.3059T>G
XR_001740023.2:n.2917+142T>G
XR_245095.4:n.2743+142T>G
NM_145262.4:c.1157T>G MANE Select	NP_660305.2:p.Leu386Arg
NR_026699.2:n.1247T>G
NR_026700.2:n.687+142T>G
NR_026701.2:n.1245T>G
NR_026702.2:n.618-335T>G
NM_001144951.2:c.*276T>G	NP_001138423.1:n.*276T>G