Canonical Allele Identifier: CA2432323

Gene: GLYCTK

Linked Data

• dbSNP Id: rs749088667
• ExAC: 3:52326995 T / C
• gnomAD v2: 3-52326995-T-C
• gnomAD v4: 3-52292979-T-C
• MyVariant Identifiers: chr3:g.52326995T>C (hg19) ; chr3:g.52292979T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292979T>C , CM000665.2:g.52292979T>C	GRCh38
NC_000003.11:g.52326995T>C , CM000665.1:g.52326995T>C	GRCh37
NC_000003.10:g.52302035T>C	NCBI36
NG_023246.1:g.10160T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1425T>C MANE Select	ENSP00000389175.2:p.Ala475=
ENST00000305690.12:c.*544T>C	ENSP00000301965.9:n.*544T>C
ENST00000436784.6:c.1425T>C	ENSP00000389175.2:p.Ala475=
ENST00000461183.5:c.764-67T>C	ENSP00000417264.1:n.764-67T>C
ENST00000471180.5:c.635-67T>C	ENSP00000417526.1:n.635-67T>C
ENST00000473032.5:c.530-67T>C	ENSP00000418951.1:n.530-67T>C
ENST00000477382.1:c.*544T>C	ENSP00000419008.1:n.*544T>C
ENST00000486393.5:c.*788T>C	ENSP00000419868.1:n.*788T>C
ENST00000489173.1:n.1719T>C
NM_001144951.1:c.*544T>C	NP_001138423.1:n.*544T>C
NM_145262.3:c.1425T>C	NP_660305.2:p.Ala475=
NR_026699.1:n.1523T>C
NR_026700.1:n.696-67T>C
NR_026701.1:n.1521T>C
NR_026702.1:n.626-67T>C
XM_005264878.2:c.*544T>C	XP_005264935.1:n.*544T>C
XR_245095.2:n.2743-67T>C
XM_017005730.1:c.1044T>C	XP_016861219.1:p.Ala348=
XM_024453351.1:c.1425T>C	XP_024309119.1:p.Ala475=
XM_024453352.1:c.*544T>C	XP_024309120.1:n.*544T>C
XR_001740022.2:n.3327T>C
XR_001740023.2:n.2918-67T>C
XR_245095.4:n.2744-67T>C
NM_145262.4:c.1425T>C MANE Select	NP_660305.2:p.Ala475=
NR_026699.2:n.1515T>C
NR_026700.2:n.688-67T>C
NR_026701.2:n.1513T>C
NR_026702.2:n.618-67T>C
NM_001144951.2:c.*544T>C	NP_001138423.1:n.*544T>C