Canonical Allele Identifier: CA2432365

Gene: GLYCTK

Linked Data

• dbSNP Id: rs781066450
• ExAC: 3:52327216 C / A
• gnomAD v2: 3-52327216-C-A
• gnomAD v3: 3-52293200-C-A
• gnomAD v4: 3-52293200-C-A
• MyVariant Identifiers: chr3:g.52327216C>A (hg19) ; chr3:g.52293200C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293200C>A , CM000665.2:g.52293200C>A	GRCh38
NC_000003.11:g.52327216C>A , CM000665.1:g.52327216C>A	GRCh37
NC_000003.10:g.52302256C>A	NCBI36
NG_023246.1:g.10381C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.*74C>A MANE Select	ENSP00000389175.2:n.*74C>A
ENST00000436784.6:c.*74C>A	ENSP00000389175.2:n.*74C>A
ENST00000471180.5:c.*58+8C>A	ENSP00000417526.1:n.*58+8C>A
ENST00000473032.5:c.*58+8C>A	ENSP00000418951.1:n.*58+8C>A
ENST00000486393.5:c.*1009C>A	ENSP00000419868.1:n.*1009C>A
ENST00000489173.1:n.1914+26C>A
NM_145262.3:c.*74C>A	NP_660305.2:n.*74C>A
NR_026699.1:n.1744C>A
NR_026700.1:n.842+8C>A
NR_026701.1:n.1734+8C>A
NR_026702.1:n.772+8C>A
XM_005264878.2:c.*765C>A	XP_005264935.1:n.*765C>A
XR_245095.2:n.2889+8C>A
XM_017005730.1:c.*74C>A	XP_016861219.1:n.*74C>A
XM_024453351.1:c.*74C>A	XP_024309119.1:n.*74C>A
XM_024453352.1:c.*765C>A	XP_024309120.1:n.*765C>A
XR_001740022.2:n.3540+8C>A
XR_001740023.2:n.3064+8C>A
XR_245095.4:n.2890+8C>A
NM_145262.4:c.*74C>A MANE Select	NP_660305.2:n.*74C>A
NR_026699.2:n.1736C>A
NR_026700.2:n.834+8C>A
NR_026701.2:n.1726+8C>A
NR_026702.2:n.764+8C>A
NM_001144951.2:c.*765C>A	NP_001138423.1:n.*765C>A