Canonical Allele Identifier: CA353076642

Gene: GLYCTK

Linked Data

• dbSNP Id: rs758280911
• gnomAD v4: 3-52293069-A-T
• MyVariant Identifiers: chr3:g.52327085A>T (hg19) ; chr3:g.52293069A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293069A>T , CM000665.2:g.52293069A>T	GRCh38
NC_000003.11:g.52327085A>T , CM000665.1:g.52327085A>T	GRCh37
NC_000003.10:g.52302125A>T	NCBI36
NG_023246.1:g.10250A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1515A>T MANE Select	ENSP00000389175.2:p.Thr505=
ENST00000436784.6:c.1515A>T	ENSP00000389175.2:p.Thr505=
ENST00000461183.5:c.787A>T	ENSP00000417264.1:p.Arg263Trp
ENST00000471180.5:c.658A>T	ENSP00000417526.1:p.Arg220Trp
ENST00000473032.5:c.553A>T	ENSP00000418951.1:p.Arg185Trp
ENST00000486393.5:c.*878A>T	ENSP00000419868.1:n.*878A>T
ENST00000489173.1:n.1809A>T
NM_145262.3:c.1515A>T	NP_660305.2:p.Thr505=
NR_026699.1:n.1613A>T
NR_026700.1:n.719A>T
NR_026701.1:n.1611A>T
NR_026702.1:n.649A>T
XM_005264878.2:c.*634A>T	XP_005264935.1:n.*634A>T
XR_245095.2:n.2766A>T
XM_017005730.1:c.1134A>T	XP_016861219.1:p.Thr378=
XM_024453351.1:c.1515A>T	XP_024309119.1:p.Thr505=
XM_024453352.1:c.*634A>T	XP_024309120.1:n.*634A>T
XR_001740022.2:n.3417A>T
XR_001740023.2:n.2941A>T
XR_245095.4:n.2767A>T
NM_145262.4:c.1515A>T MANE Select	NP_660305.2:p.Thr505=
NR_026699.2:n.1605A>T
NR_026700.2:n.711A>T
NR_026701.2:n.1603A>T
NR_026702.2:n.641A>T
NM_001144951.2:c.*634A>T	NP_001138423.1:n.*634A>T