Canonical Allele Identifier: CA353076319

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1259265922
• gnomAD v2: 3-52327019-C-G
• gnomAD v3: 3-52293003-C-G
• gnomAD v4: 3-52293003-C-G
• MyVariant Identifiers: chr3:g.52327019C>G (hg19) ; chr3:g.52293003C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293003C>G , CM000665.2:g.52293003C>G	GRCh38
NC_000003.11:g.52327019C>G , CM000665.1:g.52327019C>G	GRCh37
NC_000003.10:g.52302059C>G	NCBI36
NG_023246.1:g.10184C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000436784.7:c.1449C>G MANE Select	ENSP00000389175.2:p.Phe483Leu
ENST00000305690.12:c.*568C>G	ENSP00000301965.9:n.*568C>G
ENST00000436784.6:c.1449C>G	ENSP00000389175.2:p.Phe483Leu
ENST00000461183.5:c.764-43C>G	ENSP00000417264.1:n.764-43C>G
ENST00000471180.5:c.635-43C>G	ENSP00000417526.1:n.635-43C>G
ENST00000473032.5:c.530-43C>G	ENSP00000418951.1:n.530-43C>G
ENST00000477382.1:c.*568C>G	ENSP00000419008.1:n.*568C>G
ENST00000486393.5:c.*812C>G	ENSP00000419868.1:n.*812C>G
ENST00000489173.1:n.1743C>G
NM_001144951.1:c.*568C>G	NP_001138423.1:n.*568C>G
NM_145262.3:c.1449C>G	NP_660305.2:p.Phe483Leu
NR_026699.1:n.1547C>G
NR_026700.1:n.696-43C>G
NR_026701.1:n.1545C>G
NR_026702.1:n.626-43C>G
XM_005264878.2:c.*568C>G	XP_005264935.1:n.*568C>G
XR_245095.2:n.2743-43C>G
XM_017005730.1:c.1068C>G	XP_016861219.1:p.Phe356Leu
XM_024453351.1:c.1449C>G	XP_024309119.1:p.Phe483Leu
XM_024453352.1:c.*568C>G	XP_024309120.1:n.*568C>G
XR_001740022.2:n.3351C>G
XR_001740023.2:n.2918-43C>G
XR_245095.4:n.2744-43C>G
NM_145262.4:c.1449C>G MANE Select	NP_660305.2:p.Phe483Leu
NR_026699.2:n.1539C>G
NR_026700.2:n.688-43C>G
NR_026701.2:n.1537C>G
NR_026702.2:n.618-43C>G
NM_001144951.2:c.*568C>G	NP_001138423.1:n.*568C>G