Canonical Allele Identifier: CA543056393

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1189531719
• gnomAD v2: 3-52327252-C-G
• gnomAD v4: 3-52293236-C-G
• MyVariant Identifiers: chr3:g.52327252C>G (hg19) ; chr3:g.52293236C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293236C>G , CM000665.2:g.52293236C>G	GRCh38
NC_000003.11:g.52327252C>G , CM000665.1:g.52327252C>G	GRCh37
NC_000003.10:g.52302292C>G	NCBI36
NG_023246.1:g.10417C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.*110C>G MANE Select	ENSP00000389175.2:n.*110C>G
ENST00000436784.6:c.*110C>G	ENSP00000389175.2:n.*110C>G
ENST00000471180.5:c.*58+44C>G	ENSP00000417526.1:n.*58+44C>G
ENST00000473032.5:c.*58+44C>G	ENSP00000418951.1:n.*58+44C>G
ENST00000486393.5:c.*1045C>G	ENSP00000419868.1:n.*1045C>G
ENST00000489173.1:n.1914+62C>G
NM_145262.3:c.*110C>G	NP_660305.2:n.*110C>G
NR_026699.1:n.1780C>G
NR_026700.1:n.842+44C>G
NR_026701.1:n.1734+44C>G
NR_026702.1:n.772+44C>G
XM_005264878.2:c.*801C>G	XP_005264935.1:n.*801C>G
XR_245095.2:n.2889+44C>G
XM_017005730.1:c.*110C>G	XP_016861219.1:n.*110C>G
XM_024453351.1:c.*110C>G	XP_024309119.1:n.*110C>G
XM_024453352.1:c.*801C>G	XP_024309120.1:n.*801C>G
XR_001740022.2:n.3540+44C>G
XR_001740023.2:n.3064+44C>G
XR_245095.4:n.2890+44C>G
NM_145262.4:c.*110C>G MANE Select	NP_660305.2:n.*110C>G
NR_026699.2:n.1772C>G
NR_026700.2:n.834+44C>G
NR_026701.2:n.1726+44C>G
NR_026702.2:n.764+44C>G
NM_001144951.2:c.*801C>G	NP_001138423.1:n.*801C>G