Canonical Allele Identifier: CA353076588

Gene: GLYCTK

Linked Data

• gnomAD v4: 3-52293052-G-A
• MyVariant Identifiers: chr3:g.52327068G>A (hg19) ; chr3:g.52293052G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293052G>A , CM000665.2:g.52293052G>A	GRCh38
NC_000003.11:g.52327068G>A , CM000665.1:g.52327068G>A	GRCh37
NC_000003.10:g.52302108G>A	NCBI36
NG_023246.1:g.10233G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000436784.7:c.1498G>A MANE Select	ENSP00000389175.2:p.Ala500Thr
ENST00000436784.6:c.1498G>A	ENSP00000389175.2:p.Ala500Thr
ENST00000461183.5:c.770G>A	ENSP00000417264.1:p.Gly257Asp
ENST00000471180.5:c.641G>A	ENSP00000417526.1:p.Gly214Asp
ENST00000473032.5:c.536G>A	ENSP00000418951.1:p.Gly179Asp
ENST00000486393.5:c.*861G>A	ENSP00000419868.1:n.*861G>A
ENST00000489173.1:n.1792G>A
NM_145262.3:c.1498G>A	NP_660305.2:p.Ala500Thr
NR_026699.1:n.1596G>A
NR_026700.1:n.702G>A
NR_026701.1:n.1594G>A
NR_026702.1:n.632G>A
XM_005264878.2:c.*617G>A	XP_005264935.1:n.*617G>A
XR_245095.2:n.2749G>A
XM_017005730.1:c.1117G>A	XP_016861219.1:p.Ala373Thr
XM_024453351.1:c.1498G>A	XP_024309119.1:p.Ala500Thr
XM_024453352.1:c.*617G>A	XP_024309120.1:n.*617G>A
XR_001740022.2:n.3400G>A
XR_001740023.2:n.2924G>A
XR_245095.4:n.2750G>A
NM_145262.4:c.1498G>A MANE Select	NP_660305.2:p.Ala500Thr
NR_026699.2:n.1588G>A
NR_026700.2:n.694G>A
NR_026701.2:n.1586G>A
NR_026702.2:n.624G>A
NM_001144951.2:c.*617G>A	NP_001138423.1:n.*617G>A