Canonical Allele Identifier: CA353076969

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1578032379
• gnomAD v3: 3-52293128-G-A
• gnomAD v4: 3-52293128-G-A
• MyVariant Identifiers: chr3:g.52327144G>A (hg19) ; chr3:g.52293128G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293128G>A , CM000665.2:g.52293128G>A	GRCh38
NC_000003.11:g.52327144G>A , CM000665.1:g.52327144G>A	GRCh37
NC_000003.10:g.52302184G>A	NCBI36
NG_023246.1:g.10309G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.*2G>A MANE Select	ENSP00000389175.2:n.*2G>A
ENST00000436784.6:c.*2G>A	ENSP00000389175.2:n.*2G>A
ENST00000461183.5:c.846G>A	ENSP00000417264.1:p.Met282Ile
ENST00000471180.5:c.717G>A	ENSP00000417526.1:p.Met239Ile
ENST00000473032.5:c.612G>A	ENSP00000418951.1:p.Met204Ile
ENST00000486393.5:c.*937G>A	ENSP00000419868.1:n.*937G>A
ENST00000489173.1:n.1868G>A
NM_145262.3:c.*2G>A	NP_660305.2:n.*2G>A
NR_026699.1:n.1672G>A
NR_026700.1:n.778G>A
NR_026701.1:n.1670G>A
NR_026702.1:n.708G>A
XM_005264878.2:c.*693G>A	XP_005264935.1:n.*693G>A
XR_245095.2:n.2825G>A
XM_017005730.1:c.*2G>A	XP_016861219.1:n.*2G>A
XM_024453351.1:c.*2G>A	XP_024309119.1:n.*2G>A
XM_024453352.1:c.*693G>A	XP_024309120.1:n.*693G>A
XR_001740022.2:n.3476G>A
XR_001740023.2:n.3000G>A
XR_245095.4:n.2826G>A
NM_145262.4:c.*2G>A MANE Select	NP_660305.2:n.*2G>A
NR_026699.2:n.1664G>A
NR_026700.2:n.770G>A
NR_026701.2:n.1662G>A
NR_026702.2:n.700G>A
NM_001144951.2:c.*693G>A	NP_001138423.1:n.*693G>A