Canonical Allele Identifier: CA2432353

Gene: GLYCTK

Linked Data

• dbSNP Id: rs370143058
• ExAC: 3:52327131 C / T
• gnomAD v2: 3-52327131-C-T
• gnomAD v3: 3-52293115-C-T
• gnomAD v4: 3-52293115-C-T
• MyVariant Identifiers: chr3:g.52327131C>T (hg19) ; chr3:g.52293115C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293115C>T , CM000665.2:g.52293115C>T	GRCh38
NC_000003.11:g.52327131C>T , CM000665.1:g.52327131C>T	GRCh37
NC_000003.10:g.52302171C>T	NCBI36
NG_023246.1:g.10296C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000436784.7:c.1561C>T MANE Select	ENSP00000389175.2:p.Arg521Trp
ENST00000436784.6:c.1561C>T	ENSP00000389175.2:p.Arg521Trp
ENST00000461183.5:c.833C>T	ENSP00000417264.1:p.Ala278Val
ENST00000471180.5:c.704C>T	ENSP00000417526.1:p.Ala235Val
ENST00000473032.5:c.599C>T	ENSP00000418951.1:p.Ala200Val
ENST00000486393.5:c.*924C>T	ENSP00000419868.1:n.*924C>T
ENST00000489173.1:n.1855C>T
NM_145262.3:c.1561C>T	NP_660305.2:p.Arg521Trp
NR_026699.1:n.1659C>T
NR_026700.1:n.765C>T
NR_026701.1:n.1657C>T
NR_026702.1:n.695C>T
XM_005264878.2:c.*680C>T	XP_005264935.1:n.*680C>T
XR_245095.2:n.2812C>T
XM_017005730.1:c.1180C>T	XP_016861219.1:p.Arg394Trp
XM_024453351.1:c.1561C>T	XP_024309119.1:p.Arg521Trp
XM_024453352.1:c.*680C>T	XP_024309120.1:n.*680C>T
XR_001740022.2:n.3463C>T
XR_001740023.2:n.2987C>T
XR_245095.4:n.2813C>T
NM_145262.4:c.1561C>T MANE Select	NP_660305.2:p.Arg521Trp
NR_026699.2:n.1651C>T
NR_026700.2:n.757C>T
NR_026701.2:n.1649C>T
NR_026702.2:n.687C>T
NM_001144951.2:c.*680C>T	NP_001138423.1:n.*680C>T