Canonical Allele Identifier: CA353076776

Gene: GLYCTK

Linked Data

• gnomAD v4: 3-52293094-G-T
• MyVariant Identifiers: chr3:g.52327110G>T (hg19) ; chr3:g.52293094G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293094G>T , CM000665.2:g.52293094G>T	GRCh38
NC_000003.11:g.52327110G>T , CM000665.1:g.52327110G>T	GRCh37
NC_000003.10:g.52302150G>T	NCBI36
NG_023246.1:g.10275G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1540G>T MANE Select	ENSP00000389175.2:p.Asp514Tyr
ENST00000436784.6:c.1540G>T	ENSP00000389175.2:p.Asp514Tyr
ENST00000461183.5:c.812G>T	ENSP00000417264.1:p.Gly271Val
ENST00000471180.5:c.683G>T	ENSP00000417526.1:p.Gly228Val
ENST00000473032.5:c.578G>T	ENSP00000418951.1:p.Gly193Val
ENST00000486393.5:c.*903G>T	ENSP00000419868.1:n.*903G>T
ENST00000489173.1:n.1834G>T
NM_145262.3:c.1540G>T	NP_660305.2:p.Asp514Tyr
NR_026699.1:n.1638G>T
NR_026700.1:n.744G>T
NR_026701.1:n.1636G>T
NR_026702.1:n.674G>T
XM_005264878.2:c.*659G>T	XP_005264935.1:n.*659G>T
XR_245095.2:n.2791G>T
XM_017005730.1:c.1159G>T	XP_016861219.1:p.Asp387Tyr
XM_024453351.1:c.1540G>T	XP_024309119.1:p.Asp514Tyr
XM_024453352.1:c.*659G>T	XP_024309120.1:n.*659G>T
XR_001740022.2:n.3442G>T
XR_001740023.2:n.2966G>T
XR_245095.4:n.2792G>T
NM_145262.4:c.1540G>T MANE Select	NP_660305.2:p.Asp514Tyr
NR_026699.2:n.1630G>T
NR_026700.2:n.736G>T
NR_026701.2:n.1628G>T
NR_026702.2:n.666G>T
NM_001144951.2:c.*659G>T	NP_001138423.1:n.*659G>T