Canonical Allele Identifier: CA353076886

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1245589801
• gnomAD v3: 3-52293112-C-T
• gnomAD v4: 3-52293112-C-T
• MyVariant Identifiers: chr3:g.52327128C>T (hg19) ; chr3:g.52293112C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293112C>T , CM000665.2:g.52293112C>T	GRCh38
NC_000003.11:g.52327128C>T , CM000665.1:g.52327128C>T	GRCh37
NC_000003.10:g.52302168C>T	NCBI36
NG_023246.1:g.10293C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1558C>T MANE Select	ENSP00000389175.2:p.Leu520=
ENST00000436784.6:c.1558C>T	ENSP00000389175.2:p.Leu520=
ENST00000461183.5:c.830C>T	ENSP00000417264.1:p.Pro277Leu
ENST00000471180.5:c.701C>T	ENSP00000417526.1:p.Pro234Leu
ENST00000473032.5:c.596C>T	ENSP00000418951.1:p.Pro199Leu
ENST00000486393.5:c.*921C>T	ENSP00000419868.1:n.*921C>T
ENST00000489173.1:n.1852C>T
NM_145262.3:c.1558C>T	NP_660305.2:p.Leu520=
NR_026699.1:n.1656C>T
NR_026700.1:n.762C>T
NR_026701.1:n.1654C>T
NR_026702.1:n.692C>T
XM_005264878.2:c.*677C>T	XP_005264935.1:n.*677C>T
XR_245095.2:n.2809C>T
XM_017005730.1:c.1177C>T	XP_016861219.1:p.Leu393=
XM_024453351.1:c.1558C>T	XP_024309119.1:p.Leu520=
XM_024453352.1:c.*677C>T	XP_024309120.1:n.*677C>T
XR_001740022.2:n.3460C>T
XR_001740023.2:n.2984C>T
XR_245095.4:n.2810C>T
NM_145262.4:c.1558C>T MANE Select	NP_660305.2:p.Leu520=
NR_026699.2:n.1648C>T
NR_026700.2:n.754C>T
NR_026701.2:n.1646C>T
NR_026702.2:n.684C>T
NM_001144951.2:c.*677C>T	NP_001138423.1:n.*677C>T