Canonical Allele Identifier: CA2432338

Gene: GLYCTK

Linked Data

• dbSNP Id: rs749901380
• ExAC: 3:52327046 C / T
• MyVariant Identifiers: chr3:g.52327046C>T (hg19) ; chr3:g.52293030C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293030C>T , CM000665.2:g.52293030C>T	GRCh38
NC_000003.11:g.52327046C>T , CM000665.1:g.52327046C>T	GRCh37
NC_000003.10:g.52302086C>T	NCBI36
NG_023246.1:g.10211C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1476C>T MANE Select	ENSP00000389175.2:p.Phe492=
ENST00000436784.6:c.1476C>T	ENSP00000389175.2:p.Phe492=
ENST00000461183.5:c.764-16C>T	ENSP00000417264.1:n.764-16C>T
ENST00000471180.5:c.635-16C>T	ENSP00000417526.1:n.635-16C>T
ENST00000473032.5:c.530-16C>T	ENSP00000418951.1:n.530-16C>T
ENST00000486393.5:c.*839C>T	ENSP00000419868.1:n.*839C>T
ENST00000489173.1:n.1770C>T
NM_145262.3:c.1476C>T	NP_660305.2:p.Phe492=
NR_026699.1:n.1574C>T
NR_026700.1:n.696-16C>T
NR_026701.1:n.1572C>T
NR_026702.1:n.626-16C>T
XM_005264878.2:c.*595C>T	XP_005264935.1:n.*595C>T
XR_245095.2:n.2743-16C>T
XM_017005730.1:c.1095C>T	XP_016861219.1:p.Phe365=
XM_024453351.1:c.1476C>T	XP_024309119.1:p.Phe492=
XM_024453352.1:c.*595C>T	XP_024309120.1:n.*595C>T
XR_001740022.2:n.3378C>T
XR_001740023.2:n.2918-16C>T
XR_245095.4:n.2744-16C>T
NM_145262.4:c.1476C>T MANE Select	NP_660305.2:p.Phe492=
NR_026699.2:n.1566C>T
NR_026700.2:n.688-16C>T
NR_026701.2:n.1564C>T
NR_026702.2:n.618-16C>T
NM_001144951.2:c.*595C>T	NP_001138423.1:n.*595C>T