Canonical Allele Identifier: CA353076605

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1316940426
• gnomAD v2: 3-52327074-C-G
• gnomAD v4: 3-52293058-C-G
• MyVariant Identifiers: chr3:g.52327074C>G (hg19) ; chr3:g.52293058C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293058C>G , CM000665.2:g.52293058C>G	GRCh38
NC_000003.11:g.52327074C>G , CM000665.1:g.52327074C>G	GRCh37
NC_000003.10:g.52302114C>G	NCBI36
NG_023246.1:g.10239C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1504C>G MANE Select	ENSP00000389175.2:p.Leu502Val
ENST00000436784.6:c.1504C>G	ENSP00000389175.2:p.Leu502Val
ENST00000461183.5:c.776C>G	ENSP00000417264.1:p.Pro259Arg
ENST00000471180.5:c.647C>G	ENSP00000417526.1:p.Pro216Arg
ENST00000473032.5:c.542C>G	ENSP00000418951.1:p.Pro181Arg
ENST00000486393.5:c.*867C>G	ENSP00000419868.1:n.*867C>G
ENST00000489173.1:n.1798C>G
NM_145262.3:c.1504C>G	NP_660305.2:p.Leu502Val
NR_026699.1:n.1602C>G
NR_026700.1:n.708C>G
NR_026701.1:n.1600C>G
NR_026702.1:n.638C>G
XM_005264878.2:c.*623C>G	XP_005264935.1:n.*623C>G
XR_245095.2:n.2755C>G
XM_017005730.1:c.1123C>G	XP_016861219.1:p.Leu375Val
XM_024453351.1:c.1504C>G	XP_024309119.1:p.Leu502Val
XM_024453352.1:c.*623C>G	XP_024309120.1:n.*623C>G
XR_001740022.2:n.3406C>G
XR_001740023.2:n.2930C>G
XR_245095.4:n.2756C>G
NM_145262.4:c.1504C>G MANE Select	NP_660305.2:p.Leu502Val
NR_026699.2:n.1594C>G
NR_026700.2:n.700C>G
NR_026701.2:n.1592C>G
NR_026702.2:n.630C>G
NM_001144951.2:c.*623C>G	NP_001138423.1:n.*623C>G