Canonical Allele Identifier: CA74736867

Gene: GLYCTK

Linked Data

• dbSNP Id: rs918720114
• gnomAD v2: 3-52327070-A-G
• gnomAD v3: 3-52293054-A-G
• gnomAD v4: 3-52293054-A-G
• MyVariant Identifiers: chr3:g.52327070A>G (hg19) ; chr3:g.52293054A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293054A>G , CM000665.2:g.52293054A>G	GRCh38
NC_000003.11:g.52327070A>G , CM000665.1:g.52327070A>G	GRCh37
NC_000003.10:g.52302110A>G	NCBI36
NG_023246.1:g.10235A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1500A>G MANE Select	ENSP00000389175.2:p.Ala500=
ENST00000436784.6:c.1500A>G	ENSP00000389175.2:p.Ala500=
ENST00000461183.5:c.772A>G	ENSP00000417264.1:p.Thr258Ala
ENST00000471180.5:c.643A>G	ENSP00000417526.1:p.Thr215Ala
ENST00000473032.5:c.538A>G	ENSP00000418951.1:p.Thr180Ala
ENST00000486393.5:c.*863A>G	ENSP00000419868.1:n.*863A>G
ENST00000489173.1:n.1794A>G
NM_145262.3:c.1500A>G	NP_660305.2:p.Ala500=
NR_026699.1:n.1598A>G
NR_026700.1:n.704A>G
NR_026701.1:n.1596A>G
NR_026702.1:n.634A>G
XM_005264878.2:c.*619A>G	XP_005264935.1:n.*619A>G
XR_245095.2:n.2751A>G
XM_017005730.1:c.1119A>G	XP_016861219.1:p.Ala373=
XM_024453351.1:c.1500A>G	XP_024309119.1:p.Ala500=
XM_024453352.1:c.*619A>G	XP_024309120.1:n.*619A>G
XR_001740022.2:n.3402A>G
XR_001740023.2:n.2926A>G
XR_245095.4:n.2752A>G
NM_145262.4:c.1500A>G MANE Select	NP_660305.2:p.Ala500=
NR_026699.2:n.1590A>G
NR_026700.2:n.696A>G
NR_026701.2:n.1588A>G
NR_026702.2:n.626A>G
NM_001144951.2:c.*619A>G	NP_001138423.1:n.*619A>G