Canonical Allele Identifier: CA2432358

Gene: GLYCTK

Linked Data

• dbSNP Id: rs759124933
• ExAC: 3:52327146 C / T
• gnomAD v2: 3-52327146-C-T
• gnomAD v3: 3-52293130-C-T
• gnomAD v4: 3-52293130-C-T
• MyVariant Identifiers: chr3:g.52327146C>T (hg19) ; chr3:g.52293130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293130C>T , CM000665.2:g.52293130C>T	GRCh38
NC_000003.11:g.52327146C>T , CM000665.1:g.52327146C>T	GRCh37
NC_000003.10:g.52302186C>T	NCBI36
NG_023246.1:g.10311C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.*4C>T MANE Select	ENSP00000389175.2:n.*4C>T
ENST00000436784.6:c.*4C>T	ENSP00000389175.2:n.*4C>T
ENST00000461183.5:c.848C>T	ENSP00000417264.1:p.Ala283Val
ENST00000471180.5:c.719C>T	ENSP00000417526.1:p.Ala240Val
ENST00000473032.5:c.614C>T	ENSP00000418951.1:p.Ala205Val
ENST00000486393.5:c.*939C>T	ENSP00000419868.1:n.*939C>T
ENST00000489173.1:n.1870C>T
NM_145262.3:c.*4C>T	NP_660305.2:n.*4C>T
NR_026699.1:n.1674C>T
NR_026700.1:n.780C>T
NR_026701.1:n.1672C>T
NR_026702.1:n.710C>T
XM_005264878.2:c.*695C>T	XP_005264935.1:n.*695C>T
XR_245095.2:n.2827C>T
XM_017005730.1:c.*4C>T	XP_016861219.1:n.*4C>T
XM_024453351.1:c.*4C>T	XP_024309119.1:n.*4C>T
XM_024453352.1:c.*695C>T	XP_024309120.1:n.*695C>T
XR_001740022.2:n.3478C>T
XR_001740023.2:n.3002C>T
XR_245095.4:n.2828C>T
NM_145262.4:c.*4C>T MANE Select	NP_660305.2:n.*4C>T
NR_026699.2:n.1666C>T
NR_026700.2:n.772C>T
NR_026701.2:n.1664C>T
NR_026702.2:n.702C>T
NM_001144951.2:c.*695C>T	NP_001138423.1:n.*695C>T