Canonical Allele Identifier: CA2432354

Gene: GLYCTK

Linked Data

• dbSNP Id: rs774760990
• ExAC: 3:52327132 G / A
• gnomAD v2: 3-52327132-G-A
• gnomAD v3: 3-52293116-G-A
• gnomAD v4: 3-52293116-G-A
• COSMIC: COSM5482623
• MyVariant Identifiers: chr3:g.52327132G>A (hg19) ; chr3:g.52293116G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293116G>A , CM000665.2:g.52293116G>A	GRCh38
NC_000003.11:g.52327132G>A , CM000665.1:g.52327132G>A	GRCh37
NC_000003.10:g.52302172G>A	NCBI36
NG_023246.1:g.10297G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1562G>A MANE Select	ENSP00000389175.2:p.Arg521Gln
ENST00000436784.6:c.1562G>A	ENSP00000389175.2:p.Arg521Gln
ENST00000461183.5:c.834G>A	ENSP00000417264.1:p.Ala278=
ENST00000471180.5:c.705G>A	ENSP00000417526.1:p.Ala235=
ENST00000473032.5:c.600G>A	ENSP00000418951.1:p.Ala200=
ENST00000486393.5:c.*925G>A	ENSP00000419868.1:n.*925G>A
ENST00000489173.1:n.1856G>A
NM_145262.3:c.1562G>A	NP_660305.2:p.Arg521Gln
NR_026699.1:n.1660G>A
NR_026700.1:n.766G>A
NR_026701.1:n.1658G>A
NR_026702.1:n.696G>A
XM_005264878.2:c.*681G>A	XP_005264935.1:n.*681G>A
XR_245095.2:n.2813G>A
XM_017005730.1:c.1181G>A	XP_016861219.1:p.Arg394Gln
XM_024453351.1:c.1562G>A	XP_024309119.1:p.Arg521Gln
XM_024453352.1:c.*681G>A	XP_024309120.1:n.*681G>A
XR_001740022.2:n.3464G>A
XR_001740023.2:n.2988G>A
XR_245095.4:n.2814G>A
NM_145262.4:c.1562G>A MANE Select	NP_660305.2:p.Arg521Gln
NR_026699.2:n.1652G>A
NR_026700.2:n.758G>A
NR_026701.2:n.1650G>A
NR_026702.2:n.688G>A
NM_001144951.2:c.*681G>A	NP_001138423.1:n.*681G>A