Canonical Allele Identifier: CA2432247

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 1899744
• ClinVar RCV Id: RCV002570885
• dbSNP Id: rs759478778
• ExAC: 3:52326625 C / G
• gnomAD v2: 3-52326625-C-G
• gnomAD v4: 3-52292609-C-G
• MyVariant Identifiers: chr3:g.52326625C>G (hg19) ; chr3:g.52292609C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292609C>G , CM000665.2:g.52292609C>G	GRCh38
NC_000003.11:g.52326625C>G , CM000665.1:g.52326625C>G	GRCh37
NC_000003.10:g.52301665C>G	NCBI36
NG_023246.1:g.9790C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1055C>G MANE Select	ENSP00000389175.2:p.Ala352Gly
ENST00000305690.12:c.*174C>G	ENSP00000301965.9:n.*174C>G
ENST00000436784.6:c.1055C>G	ENSP00000389175.2:p.Ala352Gly
ENST00000461183.5:c.763+40C>G	ENSP00000417264.1:n.763+40C>G
ENST00000471180.5:c.634+40C>G	ENSP00000417526.1:n.634+40C>G
ENST00000473032.5:c.530-437C>G	ENSP00000418951.1:n.530-437C>G
ENST00000477382.1:c.*174C>G	ENSP00000419008.1:n.*174C>G
ENST00000486393.5:c.*418C>G	ENSP00000419868.1:n.*418C>G
ENST00000489173.1:n.1349C>G
NM_001144951.1:c.*174C>G	NP_001138423.1:n.*174C>G
NM_145262.3:c.1055C>G	NP_660305.2:p.Ala352Gly
NR_026699.1:n.1153C>G
NR_026700.1:n.695+40C>G
NR_026701.1:n.1151C>G
NR_026702.1:n.626-437C>G
XM_005264878.2:c.*174C>G	XP_005264935.1:n.*174C>G
XR_245095.2:n.2742+40C>G
XM_017005730.1:c.674C>G	XP_016861219.1:p.Ala225Gly
XM_024453351.1:c.1055C>G	XP_024309119.1:p.Ala352Gly
XM_024453352.1:c.*174C>G	XP_024309120.1:n.*174C>G
XR_001740022.2:n.2957C>G
XR_001740023.2:n.2917+40C>G
XR_245095.4:n.2743+40C>G
NM_145262.4:c.1055C>G MANE Select	NP_660305.2:p.Ala352Gly
NR_026699.2:n.1145C>G
NR_026700.2:n.687+40C>G
NR_026701.2:n.1143C>G
NR_026702.2:n.618-437C>G
NM_001144951.2:c.*174C>G	NP_001138423.1:n.*174C>G