Canonical Allele Identifier: CA353076944

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1316735590
• gnomAD v3: 3-52293123-G-T
• gnomAD v4: 3-52293123-G-T
• MyVariant Identifiers: chr3:g.52327139G>T (hg19) ; chr3:g.52293123G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000436784.7:c.1569G>T MANE Select	ENSP00000389175.2:p.Arg523=
ENST00000436784.6:c.1569G>T	ENSP00000389175.2:p.Arg523=
ENST00000461183.5:c.841G>T	ENSP00000417264.1:p.Val281Leu
ENST00000471180.5:c.712G>T	ENSP00000417526.1:p.Val238Leu
ENST00000473032.5:c.607G>T	ENSP00000418951.1:p.Val203Leu
ENST00000486393.5:c.*932G>T	ENSP00000419868.1:n.*932G>T
ENST00000489173.1:n.1863G>T
NM_145262.3:c.1569G>T	NP_660305.2:p.Arg523=
NR_026699.1:n.1667G>T
NR_026700.1:n.773G>T
NR_026701.1:n.1665G>T
NR_026702.1:n.703G>T
XM_005264878.2:c.*688G>T	XP_005264935.1:n.*688G>T
XR_245095.2:n.2820G>T
XM_017005730.1:c.1188G>T	XP_016861219.1:p.Arg396=
XM_024453351.1:c.1569G>T	XP_024309119.1:p.Arg523=
XM_024453352.1:c.*688G>T	XP_024309120.1:n.*688G>T
XR_001740022.2:n.3471G>T
XR_001740023.2:n.2995G>T
XR_245095.4:n.2821G>T
NM_145262.4:c.1569G>T MANE Select	NP_660305.2:p.Arg523=
NR_026699.2:n.1659G>T
NR_026700.2:n.765G>T
NR_026701.2:n.1657G>T
NR_026702.2:n.695G>T
NM_001144951.2:c.*688G>T	NP_001138423.1:n.*688G>T