Canonical Allele Identifier: CA2432364

Gene: GLYCTK

Linked Data

• dbSNP Id: rs757231683
• ExAC: 3:52327215 C / T
• gnomAD v2: 3-52327215-C-T
• MyVariant Identifiers: chr3:g.52327215C>T (hg19) ; chr3:g.52293199C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293199C>T , CM000665.2:g.52293199C>T	GRCh38
NC_000003.11:g.52327215C>T , CM000665.1:g.52327215C>T	GRCh37
NC_000003.10:g.52302255C>T	NCBI36
NG_023246.1:g.10380C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.*73C>T MANE Select	ENSP00000389175.2:n.*73C>T
ENST00000436784.6:c.*73C>T	ENSP00000389175.2:n.*73C>T
ENST00000471180.5:c.*58+7C>T	ENSP00000417526.1:n.*58+7C>T
ENST00000473032.5:c.*58+7C>T	ENSP00000418951.1:n.*58+7C>T
ENST00000486393.5:c.*1008C>T	ENSP00000419868.1:n.*1008C>T
ENST00000489173.1:n.1914+25C>T
NM_145262.3:c.*73C>T	NP_660305.2:n.*73C>T
NR_026699.1:n.1743C>T
NR_026700.1:n.842+7C>T
NR_026701.1:n.1734+7C>T
NR_026702.1:n.772+7C>T
XM_005264878.2:c.*764C>T	XP_005264935.1:n.*764C>T
XR_245095.2:n.2889+7C>T
XM_017005730.1:c.*73C>T	XP_016861219.1:n.*73C>T
XM_024453351.1:c.*73C>T	XP_024309119.1:n.*73C>T
XM_024453352.1:c.*764C>T	XP_024309120.1:n.*764C>T
XR_001740022.2:n.3540+7C>T
XR_001740023.2:n.3064+7C>T
XR_245095.4:n.2890+7C>T
NM_145262.4:c.*73C>T MANE Select	NP_660305.2:n.*73C>T
NR_026699.2:n.1735C>T
NR_026700.2:n.834+7C>T
NR_026701.2:n.1726+7C>T
NR_026702.2:n.764+7C>T
NM_001144951.2:c.*764C>T	NP_001138423.1:n.*764C>T