Canonical Allele Identifier: CA2432246

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 1596166
• ClinVar RCV Id: RCV002113199 ; RCV003913692
• dbSNP Id: rs149065444
• ExAC: 3:52326623 G / A
• gnomAD v2: 3-52326623-G-A
• gnomAD v3: 3-52292607-G-A
• gnomAD v4: 3-52292607-G-A
• MyVariant Identifiers: chr3:g.52326623G>A (hg19) ; chr3:g.52292607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292607G>A , CM000665.2:g.52292607G>A	GRCh38
NC_000003.11:g.52326623G>A , CM000665.1:g.52326623G>A	GRCh37
NC_000003.10:g.52301663G>A	NCBI36
NG_023246.1:g.9788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1053G>A MANE Select	ENSP00000389175.2:p.Leu351=
ENST00000305690.12:c.*172G>A	ENSP00000301965.9:n.*172G>A
ENST00000436784.6:c.1053G>A	ENSP00000389175.2:p.Leu351=
ENST00000461183.5:c.763+38G>A	ENSP00000417264.1:n.763+38G>A
ENST00000471180.5:c.634+38G>A	ENSP00000417526.1:n.634+38G>A
ENST00000473032.5:c.530-439G>A	ENSP00000418951.1:n.530-439G>A
ENST00000477382.1:c.*172G>A	ENSP00000419008.1:n.*172G>A
ENST00000486393.5:c.*416G>A	ENSP00000419868.1:n.*416G>A
ENST00000489173.1:n.1347G>A
NM_001144951.1:c.*172G>A	NP_001138423.1:n.*172G>A
NM_145262.3:c.1053G>A	NP_660305.2:p.Leu351=
NR_026699.1:n.1151G>A
NR_026700.1:n.695+38G>A
NR_026701.1:n.1149G>A
NR_026702.1:n.626-439G>A
XM_005264878.2:c.*172G>A	XP_005264935.1:n.*172G>A
XR_245095.2:n.2742+38G>A
XM_017005730.1:c.672G>A	XP_016861219.1:p.Leu224=
XM_024453351.1:c.1053G>A	XP_024309119.1:p.Leu351=
XM_024453352.1:c.*172G>A	XP_024309120.1:n.*172G>A
XR_001740022.2:n.2955G>A
XR_001740023.2:n.2917+38G>A
XR_245095.4:n.2743+38G>A
NM_145262.4:c.1053G>A MANE Select	NP_660305.2:p.Leu351=
NR_026699.2:n.1143G>A
NR_026700.2:n.687+38G>A
NR_026701.2:n.1141G>A
NR_026702.2:n.618-439G>A
NM_001144951.2:c.*172G>A	NP_001138423.1:n.*172G>A