Canonical Allele Identifier: CA2432345

Gene: GLYCTK

Linked Data

• dbSNP Id: rs777617813
• ExAC: 3:52327086 G / C
• gnomAD v2: 3-52327086-G-C
• gnomAD v4: 3-52293070-G-C
• MyVariant Identifiers: chr3:g.52327086G>C (hg19) ; chr3:g.52293070G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293070G>C , CM000665.2:g.52293070G>C	GRCh38
NC_000003.11:g.52327086G>C , CM000665.1:g.52327086G>C	GRCh37
NC_000003.10:g.52302126G>C	NCBI36
NG_023246.1:g.10251G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1516G>C MANE Select	ENSP00000389175.2:p.Gly506Arg
ENST00000436784.6:c.1516G>C	ENSP00000389175.2:p.Gly506Arg
ENST00000461183.5:c.788G>C	ENSP00000417264.1:p.Arg263Thr
ENST00000471180.5:c.659G>C	ENSP00000417526.1:p.Arg220Thr
ENST00000473032.5:c.554G>C	ENSP00000418951.1:p.Arg185Thr
ENST00000486393.5:c.*879G>C	ENSP00000419868.1:n.*879G>C
ENST00000489173.1:n.1810G>C
NM_145262.3:c.1516G>C	NP_660305.2:p.Gly506Arg
NR_026699.1:n.1614G>C
NR_026700.1:n.720G>C
NR_026701.1:n.1612G>C
NR_026702.1:n.650G>C
XM_005264878.2:c.*635G>C	XP_005264935.1:n.*635G>C
XR_245095.2:n.2767G>C
XM_017005730.1:c.1135G>C	XP_016861219.1:p.Gly379Arg
XM_024453351.1:c.1516G>C	XP_024309119.1:p.Gly506Arg
XM_024453352.1:c.*635G>C	XP_024309120.1:n.*635G>C
XR_001740022.2:n.3418G>C
XR_001740023.2:n.2942G>C
XR_245095.4:n.2768G>C
NM_145262.4:c.1516G>C MANE Select	NP_660305.2:p.Gly506Arg
NR_026699.2:n.1606G>C
NR_026700.2:n.712G>C
NR_026701.2:n.1604G>C
NR_026702.2:n.642G>C
NM_001144951.2:c.*635G>C	NP_001138423.1:n.*635G>C