Canonical Allele Identifier: CA2432324

Gene: GLYCTK

Linked Data

• dbSNP Id: rs147924619
• ExAC: 3:52326996 G / A
• gnomAD v2: 3-52326996-G-A
• gnomAD v3: 3-52292980-G-A
• gnomAD v4: 3-52292980-G-A
• MyVariant Identifiers: chr3:g.52326996G>A (hg19) ; chr3:g.52292980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292980G>A , CM000665.2:g.52292980G>A	GRCh38
NC_000003.11:g.52326996G>A , CM000665.1:g.52326996G>A	GRCh37
NC_000003.10:g.52302036G>A	NCBI36
NG_023246.1:g.10161G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000436784.7:c.1426G>A MANE Select	ENSP00000389175.2:p.Glu476Lys
ENST00000305690.12:c.*545G>A	ENSP00000301965.9:n.*545G>A
ENST00000436784.6:c.1426G>A	ENSP00000389175.2:p.Glu476Lys
ENST00000461183.5:c.764-66G>A	ENSP00000417264.1:n.764-66G>A
ENST00000471180.5:c.635-66G>A	ENSP00000417526.1:n.635-66G>A
ENST00000473032.5:c.530-66G>A	ENSP00000418951.1:n.530-66G>A
ENST00000477382.1:c.*545G>A	ENSP00000419008.1:n.*545G>A
ENST00000486393.5:c.*789G>A	ENSP00000419868.1:n.*789G>A
ENST00000489173.1:n.1720G>A
NM_001144951.1:c.*545G>A	NP_001138423.1:n.*545G>A
NM_145262.3:c.1426G>A	NP_660305.2:p.Glu476Lys
NR_026699.1:n.1524G>A
NR_026700.1:n.696-66G>A
NR_026701.1:n.1522G>A
NR_026702.1:n.626-66G>A
XM_005264878.2:c.*545G>A	XP_005264935.1:n.*545G>A
XR_245095.2:n.2743-66G>A
XM_017005730.1:c.1045G>A	XP_016861219.1:p.Glu349Lys
XM_024453351.1:c.1426G>A	XP_024309119.1:p.Glu476Lys
XM_024453352.1:c.*545G>A	XP_024309120.1:n.*545G>A
XR_001740022.2:n.3328G>A
XR_001740023.2:n.2918-66G>A
XR_245095.4:n.2744-66G>A
NM_145262.4:c.1426G>A MANE Select	NP_660305.2:p.Glu476Lys
NR_026699.2:n.1516G>A
NR_026700.2:n.688-66G>A
NR_026701.2:n.1514G>A
NR_026702.2:n.618-66G>A
NM_001144951.2:c.*545G>A	NP_001138423.1:n.*545G>A