Canonical Allele Identifier: CA353076679

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1203580738
• gnomAD v4: 3-52293076-A-C
• MyVariant Identifiers: chr3:g.52327092A>C (hg19) ; chr3:g.52293076A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293076A>C , CM000665.2:g.52293076A>C	GRCh38
NC_000003.11:g.52327092A>C , CM000665.1:g.52327092A>C	GRCh37
NC_000003.10:g.52302132A>C	NCBI36
NG_023246.1:g.10257A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000436784.7:c.1522A>C MANE Select	ENSP00000389175.2:p.Thr508Pro
ENST00000436784.6:c.1522A>C	ENSP00000389175.2:p.Thr508Pro
ENST00000461183.5:c.794A>C	ENSP00000417264.1:p.Asp265Ala
ENST00000471180.5:c.665A>C	ENSP00000417526.1:p.Asp222Ala
ENST00000473032.5:c.560A>C	ENSP00000418951.1:p.Asp187Ala
ENST00000486393.5:c.*885A>C	ENSP00000419868.1:n.*885A>C
ENST00000489173.1:n.1816A>C
NM_145262.3:c.1522A>C	NP_660305.2:p.Thr508Pro
NR_026699.1:n.1620A>C
NR_026700.1:n.726A>C
NR_026701.1:n.1618A>C
NR_026702.1:n.656A>C
XM_005264878.2:c.*641A>C	XP_005264935.1:n.*641A>C
XR_245095.2:n.2773A>C
XM_017005730.1:c.1141A>C	XP_016861219.1:p.Thr381Pro
XM_024453351.1:c.1522A>C	XP_024309119.1:p.Thr508Pro
XM_024453352.1:c.*641A>C	XP_024309120.1:n.*641A>C
XR_001740022.2:n.3424A>C
XR_001740023.2:n.2948A>C
XR_245095.4:n.2774A>C
NM_145262.4:c.1522A>C MANE Select	NP_660305.2:p.Thr508Pro
NR_026699.2:n.1612A>C
NR_026700.2:n.718A>C
NR_026701.2:n.1610A>C
NR_026702.2:n.648A>C
NM_001144951.2:c.*641A>C	NP_001138423.1:n.*641A>C