Canonical Allele Identifier: CA2432347

Gene: GLYCTK

Linked Data

• dbSNP Id: rs770979346
• ExAC: 3:52327104 G / A
• gnomAD v2: 3-52327104-G-A
• gnomAD v4: 3-52293088-G-A
• MyVariant Identifiers: chr3:g.52327104G>A (hg19) ; chr3:g.52293088G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293088G>A , CM000665.2:g.52293088G>A	GRCh38
NC_000003.11:g.52327104G>A , CM000665.1:g.52327104G>A	GRCh37
NC_000003.10:g.52302144G>A	NCBI36
NG_023246.1:g.10269G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000436784.7:c.1534G>A MANE Select	ENSP00000389175.2:p.Val512Ile
ENST00000436784.6:c.1534G>A	ENSP00000389175.2:p.Val512Ile
ENST00000461183.5:c.806G>A	ENSP00000417264.1:p.Cys269Tyr
ENST00000471180.5:c.677G>A	ENSP00000417526.1:p.Cys226Tyr
ENST00000473032.5:c.572G>A	ENSP00000418951.1:p.Cys191Tyr
ENST00000486393.5:c.*897G>A	ENSP00000419868.1:n.*897G>A
ENST00000489173.1:n.1828G>A
NM_145262.3:c.1534G>A	NP_660305.2:p.Val512Ile
NR_026699.1:n.1632G>A
NR_026700.1:n.738G>A
NR_026701.1:n.1630G>A
NR_026702.1:n.668G>A
XM_005264878.2:c.*653G>A	XP_005264935.1:n.*653G>A
XR_245095.2:n.2785G>A
XM_017005730.1:c.1153G>A	XP_016861219.1:p.Val385Ile
XM_024453351.1:c.1534G>A	XP_024309119.1:p.Val512Ile
XM_024453352.1:c.*653G>A	XP_024309120.1:n.*653G>A
XR_001740022.2:n.3436G>A
XR_001740023.2:n.2960G>A
XR_245095.4:n.2786G>A
NM_145262.4:c.1534G>A MANE Select	NP_660305.2:p.Val512Ile
NR_026699.2:n.1624G>A
NR_026700.2:n.730G>A
NR_026701.2:n.1622G>A
NR_026702.2:n.660G>A
NM_001144951.2:c.*653G>A	NP_001138423.1:n.*653G>A