Canonical Allele Identifier: CA543056248

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1469823076
• gnomAD v2: 3-52327273-A-T
• MyVariant Identifiers: chr3:g.52327273A>T (hg19) ; chr3:g.52293257A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293257A>T , CM000665.2:g.52293257A>T	GRCh38
NC_000003.11:g.52327273A>T , CM000665.1:g.52327273A>T	GRCh37
NC_000003.10:g.52302313A>T	NCBI36
NG_023246.1:g.10438A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.*131A>T MANE Select	ENSP00000389175.2:n.*131A>T
ENST00000436784.6:c.*131A>T	ENSP00000389175.2:n.*131A>T
ENST00000471180.5:c.*59-50A>T	ENSP00000417526.1:n.*59-50A>T
ENST00000473032.5:c.*59-50A>T	ENSP00000418951.1:n.*59-50A>T
ENST00000486393.5:c.*1066A>T	ENSP00000419868.1:n.*1066A>T
ENST00000489173.1:n.1915-50A>T
NM_145262.3:c.*131A>T	NP_660305.2:n.*131A>T
NR_026699.1:n.1801A>T
NR_026700.1:n.843-50A>T
NR_026701.1:n.1735-50A>T
NR_026702.1:n.773-50A>T
XM_005264878.2:c.*822A>T	XP_005264935.1:n.*822A>T
XR_245095.2:n.2890-50A>T
XM_017005730.1:c.*131A>T	XP_016861219.1:n.*131A>T
XM_024453351.1:c.*131A>T	XP_024309119.1:n.*131A>T
XM_024453352.1:c.*822A>T	XP_024309120.1:n.*822A>T
XR_001740022.2:n.3541-50A>T
XR_001740023.2:n.3065-50A>T
XR_245095.4:n.2891-50A>T
NM_145262.4:c.*131A>T MANE Select	NP_660305.2:n.*131A>T
NR_026699.2:n.1793A>T
NR_026700.2:n.835-50A>T
NR_026701.2:n.1727-50A>T
NR_026702.2:n.765-50A>T
NM_001144951.2:c.*822A>T	NP_001138423.1:n.*822A>T