Canonical Allele Identifier: CA74736825

Gene: GLYCTK

Linked Data

• dbSNP Id: rs371018021
• gnomAD v4: 3-52292978-C-G
• MyVariant Identifiers: chr3:g.52326994C>G (hg19) ; chr3:g.52292978C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292978C>G , CM000665.2:g.52292978C>G	GRCh38
NC_000003.11:g.52326994C>G , CM000665.1:g.52326994C>G	GRCh37
NC_000003.10:g.52302034C>G	NCBI36
NG_023246.1:g.10159C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1424C>G MANE Select	ENSP00000389175.2:p.Ala475Gly
ENST00000305690.12:c.*543C>G	ENSP00000301965.9:n.*543C>G
ENST00000436784.6:c.1424C>G	ENSP00000389175.2:p.Ala475Gly
ENST00000461183.5:c.764-68C>G	ENSP00000417264.1:n.764-68C>G
ENST00000471180.5:c.635-68C>G	ENSP00000417526.1:n.635-68C>G
ENST00000473032.5:c.530-68C>G	ENSP00000418951.1:n.530-68C>G
ENST00000477382.1:c.*543C>G	ENSP00000419008.1:n.*543C>G
ENST00000486393.5:c.*787C>G	ENSP00000419868.1:n.*787C>G
ENST00000489173.1:n.1718C>G
NM_001144951.1:c.*543C>G	NP_001138423.1:n.*543C>G
NM_145262.3:c.1424C>G	NP_660305.2:p.Ala475Gly
NR_026699.1:n.1522C>G
NR_026700.1:n.696-68C>G
NR_026701.1:n.1520C>G
NR_026702.1:n.626-68C>G
XM_005264878.2:c.*543C>G	XP_005264935.1:n.*543C>G
XR_245095.2:n.2743-68C>G
XM_017005730.1:c.1043C>G	XP_016861219.1:p.Ala348Gly
XM_024453351.1:c.1424C>G	XP_024309119.1:p.Ala475Gly
XM_024453352.1:c.*543C>G	XP_024309120.1:n.*543C>G
XR_001740022.2:n.3326C>G
XR_001740023.2:n.2918-68C>G
XR_245095.4:n.2744-68C>G
NM_145262.4:c.1424C>G MANE Select	NP_660305.2:p.Ala475Gly
NR_026699.2:n.1514C>G
NR_026700.2:n.688-68C>G
NR_026701.2:n.1512C>G
NR_026702.2:n.618-68C>G
NM_001144951.2:c.*543C>G	NP_001138423.1:n.*543C>G