Canonical Allele Identifier: CA543056392

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1250701710
• gnomAD v2: 3-52327241-C-T
• gnomAD v4: 3-52293225-C-T
• MyVariant Identifiers: chr3:g.52327241C>T (hg19) ; chr3:g.52293225C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293225C>T , CM000665.2:g.52293225C>T	GRCh38
NC_000003.11:g.52327241C>T , CM000665.1:g.52327241C>T	GRCh37
NC_000003.10:g.52302281C>T	NCBI36
NG_023246.1:g.10406C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.*99C>T MANE Select	ENSP00000389175.2:n.*99C>T
ENST00000436784.6:c.*99C>T	ENSP00000389175.2:n.*99C>T
ENST00000471180.5:c.*58+33C>T	ENSP00000417526.1:n.*58+33C>T
ENST00000473032.5:c.*58+33C>T	ENSP00000418951.1:n.*58+33C>T
ENST00000486393.5:c.*1034C>T	ENSP00000419868.1:n.*1034C>T
ENST00000489173.1:n.1914+51C>T
NM_145262.3:c.*99C>T	NP_660305.2:n.*99C>T
NR_026699.1:n.1769C>T
NR_026700.1:n.842+33C>T
NR_026701.1:n.1734+33C>T
NR_026702.1:n.772+33C>T
XM_005264878.2:c.*790C>T	XP_005264935.1:n.*790C>T
XR_245095.2:n.2889+33C>T
XM_017005730.1:c.*99C>T	XP_016861219.1:n.*99C>T
XM_024453351.1:c.*99C>T	XP_024309119.1:n.*99C>T
XM_024453352.1:c.*790C>T	XP_024309120.1:n.*790C>T
XR_001740022.2:n.3540+33C>T
XR_001740023.2:n.3064+33C>T
XR_245095.4:n.2890+33C>T
NM_145262.4:c.*99C>T MANE Select	NP_660305.2:n.*99C>T
NR_026699.2:n.1761C>T
NR_026700.2:n.834+33C>T
NR_026701.2:n.1726+33C>T
NR_026702.2:n.764+33C>T
NM_001144951.2:c.*790C>T	NP_001138423.1:n.*790C>T