Canonical Allele Identifier: CA353076460

Gene: GLYCTK

Linked Data

• gnomAD v4: 3-52293029-T-C
• MyVariant Identifiers: chr3:g.52327045T>C (hg19) ; chr3:g.52293029T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293029T>C , CM000665.2:g.52293029T>C	GRCh38
NC_000003.11:g.52327045T>C , CM000665.1:g.52327045T>C	GRCh37
NC_000003.10:g.52302085T>C	NCBI36
NG_023246.1:g.10210T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1475T>C MANE Select	ENSP00000389175.2:p.Phe492Ser
ENST00000436784.6:c.1475T>C	ENSP00000389175.2:p.Phe492Ser
ENST00000461183.5:c.764-17T>C	ENSP00000417264.1:n.764-17T>C
ENST00000471180.5:c.635-17T>C	ENSP00000417526.1:n.635-17T>C
ENST00000473032.5:c.530-17T>C	ENSP00000418951.1:n.530-17T>C
ENST00000486393.5:c.*838T>C	ENSP00000419868.1:n.*838T>C
ENST00000489173.1:n.1769T>C
NM_145262.3:c.1475T>C	NP_660305.2:p.Phe492Ser
NR_026699.1:n.1573T>C
NR_026700.1:n.696-17T>C
NR_026701.1:n.1571T>C
NR_026702.1:n.626-17T>C
XM_005264878.2:c.*594T>C	XP_005264935.1:n.*594T>C
XR_245095.2:n.2743-17T>C
XM_017005730.1:c.1094T>C	XP_016861219.1:p.Phe365Ser
XM_024453351.1:c.1475T>C	XP_024309119.1:p.Phe492Ser
XM_024453352.1:c.*594T>C	XP_024309120.1:n.*594T>C
XR_001740022.2:n.3377T>C
XR_001740023.2:n.2918-17T>C
XR_245095.4:n.2744-17T>C
NM_145262.4:c.1475T>C MANE Select	NP_660305.2:p.Phe492Ser
NR_026699.2:n.1565T>C
NR_026700.2:n.688-17T>C
NR_026701.2:n.1563T>C
NR_026702.2:n.618-17T>C
NM_001144951.2:c.*594T>C	NP_001138423.1:n.*594T>C