Canonical Allele Identifier: CA353076940

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1316735590
• gnomAD v2: 3-52327139-G-A
• gnomAD v4: 3-52293123-G-A
• COSMIC: COSM4118983
• MyVariant Identifiers: chr3:g.52327139G>A (hg19) ; chr3:g.52293123G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293123G>A , CM000665.2:g.52293123G>A	GRCh38
NC_000003.11:g.52327139G>A , CM000665.1:g.52327139G>A	GRCh37
NC_000003.10:g.52302179G>A	NCBI36
NG_023246.1:g.10304G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000436784.7:c.1569G>A MANE Select	ENSP00000389175.2:p.Arg523=
ENST00000436784.6:c.1569G>A	ENSP00000389175.2:p.Arg523=
ENST00000461183.5:c.841G>A	ENSP00000417264.1:p.Val281Met
ENST00000471180.5:c.712G>A	ENSP00000417526.1:p.Val238Met
ENST00000473032.5:c.607G>A	ENSP00000418951.1:p.Val203Met
ENST00000486393.5:c.*932G>A	ENSP00000419868.1:n.*932G>A
ENST00000489173.1:n.1863G>A
NM_145262.3:c.1569G>A	NP_660305.2:p.Arg523=
NR_026699.1:n.1667G>A
NR_026700.1:n.773G>A
NR_026701.1:n.1665G>A
NR_026702.1:n.703G>A
XM_005264878.2:c.*688G>A	XP_005264935.1:n.*688G>A
XR_245095.2:n.2820G>A
XM_017005730.1:c.1188G>A	XP_016861219.1:p.Arg396=
XM_024453351.1:c.1569G>A	XP_024309119.1:p.Arg523=
XM_024453352.1:c.*688G>A	XP_024309120.1:n.*688G>A
XR_001740022.2:n.3471G>A
XR_001740023.2:n.2995G>A
XR_245095.4:n.2821G>A
NM_145262.4:c.1569G>A MANE Select	NP_660305.2:p.Arg523=
NR_026699.2:n.1659G>A
NR_026700.2:n.765G>A
NR_026701.2:n.1657G>A
NR_026702.2:n.695G>A
NM_001144951.2:c.*688G>A	NP_001138423.1:n.*688G>A