Canonical Allele Identifier: CA2432356

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 2629443
• ClinVar RCV Id: RCV003427768
• dbSNP Id: rs146250137
• ExAC: 3:52327137 C / T
• gnomAD v2: 3-52327137-C-T
• gnomAD v3: 3-52293121-C-T
• gnomAD v4: 3-52293121-C-T
• MyVariant Identifiers: chr3:g.52327137C>T (hg19) ; chr3:g.52293121C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293121C>T , CM000665.2:g.52293121C>T	GRCh38
NC_000003.11:g.52327137C>T , CM000665.1:g.52327137C>T	GRCh37
NC_000003.10:g.52302177C>T	NCBI36
NG_023246.1:g.10302C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1567C>T MANE Select	ENSP00000389175.2:p.Arg523Trp
ENST00000436784.6:c.1567C>T	ENSP00000389175.2:p.Arg523Trp
ENST00000461183.5:c.839C>T	ENSP00000417264.1:p.Ser280Leu
ENST00000471180.5:c.710C>T	ENSP00000417526.1:p.Ser237Leu
ENST00000473032.5:c.605C>T	ENSP00000418951.1:p.Ser202Leu
ENST00000486393.5:c.*930C>T	ENSP00000419868.1:n.*930C>T
ENST00000489173.1:n.1861C>T
NM_145262.3:c.1567C>T	NP_660305.2:p.Arg523Trp
NR_026699.1:n.1665C>T
NR_026700.1:n.771C>T
NR_026701.1:n.1663C>T
NR_026702.1:n.701C>T
XM_005264878.2:c.*686C>T	XP_005264935.1:n.*686C>T
XR_245095.2:n.2818C>T
XM_017005730.1:c.1186C>T	XP_016861219.1:p.Arg396Trp
XM_024453351.1:c.1567C>T	XP_024309119.1:p.Arg523Trp
XM_024453352.1:c.*686C>T	XP_024309120.1:n.*686C>T
XR_001740022.2:n.3469C>T
XR_001740023.2:n.2993C>T
XR_245095.4:n.2819C>T
NM_145262.4:c.1567C>T MANE Select	NP_660305.2:p.Arg523Trp
NR_026699.2:n.1657C>T
NR_026700.2:n.763C>T
NR_026701.2:n.1655C>T
NR_026702.2:n.693C>T
NM_001144951.2:c.*686C>T	NP_001138423.1:n.*686C>T