Canonical Allele Identifier: CA908119824

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1302404102
• gnomAD v3: 3-52293237-T-C
• gnomAD v4: 3-52293237-T-C
• MyVariant Identifiers: chr3:g.52327253T>C (hg19) ; chr3:g.52293237T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293237T>C , CM000665.2:g.52293237T>C	GRCh38
NC_000003.11:g.52327253T>C , CM000665.1:g.52327253T>C	GRCh37
NC_000003.10:g.52302293T>C	NCBI36
NG_023246.1:g.10418T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.*111T>C MANE Select	ENSP00000389175.2:n.*111T>C
ENST00000436784.6:c.*111T>C	ENSP00000389175.2:n.*111T>C
ENST00000471180.5:c.*58+45T>C	ENSP00000417526.1:n.*58+45T>C
ENST00000473032.5:c.*58+45T>C	ENSP00000418951.1:n.*58+45T>C
ENST00000486393.5:c.*1046T>C	ENSP00000419868.1:n.*1046T>C
ENST00000489173.1:n.1914+63T>C
NM_145262.3:c.*111T>C	NP_660305.2:n.*111T>C
NR_026699.1:n.1781T>C
NR_026700.1:n.842+45T>C
NR_026701.1:n.1734+45T>C
NR_026702.1:n.772+45T>C
XM_005264878.2:c.*802T>C	XP_005264935.1:n.*802T>C
XR_245095.2:n.2889+45T>C
XM_017005730.1:c.*111T>C	XP_016861219.1:n.*111T>C
XM_024453351.1:c.*111T>C	XP_024309119.1:n.*111T>C
XM_024453352.1:c.*802T>C	XP_024309120.1:n.*802T>C
XR_001740022.2:n.3540+45T>C
XR_001740023.2:n.3064+45T>C
XR_245095.4:n.2890+45T>C
NM_145262.4:c.*111T>C MANE Select	NP_660305.2:n.*111T>C
NR_026699.2:n.1773T>C
NR_026700.2:n.834+45T>C
NR_026701.2:n.1726+45T>C
NR_026702.2:n.764+45T>C
NM_001144951.2:c.*802T>C	NP_001138423.1:n.*802T>C