Canonical Allele Identifier: CA2432307

Gene: GLYCTK

Linked Data

• dbSNP Id: rs774322722
• ExAC: 3:52326923 C / G
• gnomAD v2: 3-52326923-C-G
• gnomAD v4: 3-52292907-C-G
• MyVariant Identifiers: chr3:g.52326923C>G (hg19) ; chr3:g.52292907C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292907C>G , CM000665.2:g.52292907C>G	GRCh38
NC_000003.11:g.52326923C>G , CM000665.1:g.52326923C>G	GRCh37
NC_000003.10:g.52301963C>G	NCBI36
NG_023246.1:g.10088C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1353C>G MANE Select	ENSP00000389175.2:p.Thr451=
ENST00000305690.12:c.*472C>G	ENSP00000301965.9:n.*472C>G
ENST00000436784.6:c.1353C>G	ENSP00000389175.2:p.Thr451=
ENST00000461183.5:c.764-139C>G	ENSP00000417264.1:n.764-139C>G
ENST00000471180.5:c.635-139C>G	ENSP00000417526.1:n.635-139C>G
ENST00000473032.5:c.530-139C>G	ENSP00000418951.1:n.530-139C>G
ENST00000477382.1:c.*472C>G	ENSP00000419008.1:n.*472C>G
ENST00000486393.5:c.*716C>G	ENSP00000419868.1:n.*716C>G
ENST00000489173.1:n.1647C>G
NM_001144951.1:c.*472C>G	NP_001138423.1:n.*472C>G
NM_145262.3:c.1353C>G	NP_660305.2:p.Thr451=
NR_026699.1:n.1451C>G
NR_026700.1:n.696-139C>G
NR_026701.1:n.1449C>G
NR_026702.1:n.626-139C>G
XM_005264878.2:c.*472C>G	XP_005264935.1:n.*472C>G
XR_245095.2:n.2743-139C>G
XM_017005730.1:c.972C>G	XP_016861219.1:p.Thr324=
XM_024453351.1:c.1353C>G	XP_024309119.1:p.Thr451=
XM_024453352.1:c.*472C>G	XP_024309120.1:n.*472C>G
XR_001740022.2:n.3255C>G
XR_001740023.2:n.2918-139C>G
XR_245095.4:n.2744-139C>G
NM_145262.4:c.1353C>G MANE Select	NP_660305.2:p.Thr451=
NR_026699.2:n.1443C>G
NR_026700.2:n.688-139C>G
NR_026701.2:n.1441C>G
NR_026702.2:n.618-139C>G
NM_001144951.2:c.*472C>G	NP_001138423.1:n.*472C>G