Canonical Allele Identifier: CA2432240

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 1031660
• ClinVar RCV Id: RCV001333561
• dbSNP Id: rs773672318
• ExAC: 3:52326606 C / G
• gnomAD v2: 3-52326606-C-G
• gnomAD v4: 3-52292590-C-G
• MyVariant Identifiers: chr3:g.52326606C>G (hg19) ; chr3:g.52292590C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292590C>G , CM000665.2:g.52292590C>G	GRCh38
NC_000003.11:g.52326606C>G , CM000665.1:g.52326606C>G	GRCh37
NC_000003.10:g.52301646C>G	NCBI36
NG_023246.1:g.9771C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1036C>G MANE Select	ENSP00000389175.2:p.Gln346Glu
ENST00000305690.12:c.*155C>G	ENSP00000301965.9:n.*155C>G
ENST00000436784.6:c.1036C>G	ENSP00000389175.2:p.Gln346Glu
ENST00000461183.5:c.763+21C>G	ENSP00000417264.1:n.763+21C>G
ENST00000471180.5:c.634+21C>G	ENSP00000417526.1:n.634+21C>G
ENST00000473032.5:c.530-456C>G	ENSP00000418951.1:n.530-456C>G
ENST00000477382.1:c.*155C>G	ENSP00000419008.1:n.*155C>G
ENST00000486393.5:c.*399C>G	ENSP00000419868.1:n.*399C>G
ENST00000489173.1:n.1330C>G
NM_001144951.1:c.*155C>G	NP_001138423.1:n.*155C>G
NM_145262.3:c.1036C>G	NP_660305.2:p.Gln346Glu
NR_026699.1:n.1134C>G
NR_026700.1:n.695+21C>G
NR_026701.1:n.1132C>G
NR_026702.1:n.626-456C>G
XM_005264878.2:c.*155C>G	XP_005264935.1:n.*155C>G
XR_245095.2:n.2742+21C>G
XM_017005730.1:c.655C>G	XP_016861219.1:p.Gln219Glu
XM_024453351.1:c.1036C>G	XP_024309119.1:p.Gln346Glu
XM_024453352.1:c.*155C>G	XP_024309120.1:n.*155C>G
XR_001740022.2:n.2938C>G
XR_001740023.2:n.2917+21C>G
XR_245095.4:n.2743+21C>G
NM_145262.4:c.1036C>G MANE Select	NP_660305.2:p.Gln346Glu
NR_026699.2:n.1126C>G
NR_026700.2:n.687+21C>G
NR_026701.2:n.1124C>G
NR_026702.2:n.618-456C>G
NM_001144951.2:c.*155C>G	NP_001138423.1:n.*155C>G