Canonical Allele Identifier: CA2432348

Gene: GLYCTK

Linked Data

• dbSNP Id: rs781463016
• ExAC: 3:52327108 T / C
• gnomAD v2: 3-52327108-T-C
• gnomAD v4: 3-52293092-T-C
• MyVariant Identifiers: chr3:g.52327108T>C (hg19) ; chr3:g.52293092T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293092T>C , CM000665.2:g.52293092T>C	GRCh38
NC_000003.11:g.52327108T>C , CM000665.1:g.52327108T>C	GRCh37
NC_000003.10:g.52302148T>C	NCBI36
NG_023246.1:g.10273T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1538T>C MANE Select	ENSP00000389175.2:p.Met513Thr
ENST00000436784.6:c.1538T>C	ENSP00000389175.2:p.Met513Thr
ENST00000461183.5:c.810T>C	ENSP00000417264.1:p.His270=
ENST00000471180.5:c.681T>C	ENSP00000417526.1:p.His227=
ENST00000473032.5:c.576T>C	ENSP00000418951.1:p.His192=
ENST00000486393.5:c.*901T>C	ENSP00000419868.1:n.*901T>C
ENST00000489173.1:n.1832T>C
NM_145262.3:c.1538T>C	NP_660305.2:p.Met513Thr
NR_026699.1:n.1636T>C
NR_026700.1:n.742T>C
NR_026701.1:n.1634T>C
NR_026702.1:n.672T>C
XM_005264878.2:c.*657T>C	XP_005264935.1:n.*657T>C
XR_245095.2:n.2789T>C
XM_017005730.1:c.1157T>C	XP_016861219.1:p.Met386Thr
XM_024453351.1:c.1538T>C	XP_024309119.1:p.Met513Thr
XM_024453352.1:c.*657T>C	XP_024309120.1:n.*657T>C
XR_001740022.2:n.3440T>C
XR_001740023.2:n.2964T>C
XR_245095.4:n.2790T>C
NM_145262.4:c.1538T>C MANE Select	NP_660305.2:p.Met513Thr
NR_026699.2:n.1628T>C
NR_026700.2:n.734T>C
NR_026701.2:n.1626T>C
NR_026702.2:n.664T>C
NM_001144951.2:c.*657T>C	NP_001138423.1:n.*657T>C