Canonical Allele Identifier: CA353076860

Gene: GLYCTK

Linked Data

• gnomAD v4: 3-52293109-T-C
• MyVariant Identifiers: chr3:g.52327125T>C (hg19) ; chr3:g.52293109T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293109T>C , CM000665.2:g.52293109T>C	GRCh38
NC_000003.11:g.52327125T>C , CM000665.1:g.52327125T>C	GRCh37
NC_000003.10:g.52302165T>C	NCBI36
NG_023246.1:g.10290T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1555T>C MANE Select	ENSP00000389175.2:p.Phe519Leu
ENST00000436784.6:c.1555T>C	ENSP00000389175.2:p.Phe519Leu
ENST00000461183.5:c.827T>C	ENSP00000417264.1:p.Val276Ala
ENST00000471180.5:c.698T>C	ENSP00000417526.1:p.Val233Ala
ENST00000473032.5:c.593T>C	ENSP00000418951.1:p.Val198Ala
ENST00000486393.5:c.*918T>C	ENSP00000419868.1:n.*918T>C
ENST00000489173.1:n.1849T>C
NM_145262.3:c.1555T>C	NP_660305.2:p.Phe519Leu
NR_026699.1:n.1653T>C
NR_026700.1:n.759T>C
NR_026701.1:n.1651T>C
NR_026702.1:n.689T>C
XM_005264878.2:c.*674T>C	XP_005264935.1:n.*674T>C
XR_245095.2:n.2806T>C
XM_017005730.1:c.1174T>C	XP_016861219.1:p.Phe392Leu
XM_024453351.1:c.1555T>C	XP_024309119.1:p.Phe519Leu
XM_024453352.1:c.*674T>C	XP_024309120.1:n.*674T>C
XR_001740022.2:n.3457T>C
XR_001740023.2:n.2981T>C
XR_245095.4:n.2807T>C
NM_145262.4:c.1555T>C MANE Select	NP_660305.2:p.Phe519Leu
NR_026699.2:n.1645T>C
NR_026700.2:n.751T>C
NR_026701.2:n.1643T>C
NR_026702.2:n.681T>C
NM_001144951.2:c.*674T>C	NP_001138423.1:n.*674T>C