Canonical Allele Identifier: CA2432332

Gene: GLYCTK

Linked Data

• dbSNP Id: rs759970139
• ExAC: 3:52327032 G / A
• MyVariant Identifiers: chr3:g.52327032G>A (hg19) ; chr3:g.52293016G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293016G>A , CM000665.2:g.52293016G>A	GRCh38
NC_000003.11:g.52327032G>A , CM000665.1:g.52327032G>A	GRCh37
NC_000003.10:g.52302072G>A	NCBI36
NG_023246.1:g.10197G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1462G>A MANE Select	ENSP00000389175.2:p.Asp488Asn
ENST00000436784.6:c.1462G>A	ENSP00000389175.2:p.Asp488Asn
ENST00000461183.5:c.764-30G>A	ENSP00000417264.1:n.764-30G>A
ENST00000471180.5:c.635-30G>A	ENSP00000417526.1:n.635-30G>A
ENST00000473032.5:c.530-30G>A	ENSP00000418951.1:n.530-30G>A
ENST00000486393.5:c.*825G>A	ENSP00000419868.1:n.*825G>A
ENST00000489173.1:n.1756G>A
NM_145262.3:c.1462G>A	NP_660305.2:p.Asp488Asn
NR_026699.1:n.1560G>A
NR_026700.1:n.696-30G>A
NR_026701.1:n.1558G>A
NR_026702.1:n.626-30G>A
XM_005264878.2:c.*581G>A	XP_005264935.1:n.*581G>A
XR_245095.2:n.2743-30G>A
XM_017005730.1:c.1081G>A	XP_016861219.1:p.Asp361Asn
XM_024453351.1:c.1462G>A	XP_024309119.1:p.Asp488Asn
XM_024453352.1:c.*581G>A	XP_024309120.1:n.*581G>A
XR_001740022.2:n.3364G>A
XR_001740023.2:n.2918-30G>A
XR_245095.4:n.2744-30G>A
NM_145262.4:c.1462G>A MANE Select	NP_660305.2:p.Asp488Asn
NR_026699.2:n.1552G>A
NR_026700.2:n.688-30G>A
NR_026701.2:n.1550G>A
NR_026702.2:n.618-30G>A
NM_001144951.2:c.*581G>A	NP_001138423.1:n.*581G>A