Canonical Allele Identifier: CA353076593

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1442380600
• gnomAD v4: 3-52293053-C-T
• MyVariant Identifiers: chr3:g.52327069C>T (hg19) ; chr3:g.52293053C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293053C>T , CM000665.2:g.52293053C>T	GRCh38
NC_000003.11:g.52327069C>T , CM000665.1:g.52327069C>T	GRCh37
NC_000003.10:g.52302109C>T	NCBI36
NG_023246.1:g.10234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1499C>T MANE Select	ENSP00000389175.2:p.Ala500Val
ENST00000436784.6:c.1499C>T	ENSP00000389175.2:p.Ala500Val
ENST00000461183.5:c.771C>T	ENSP00000417264.1:p.Gly257=
ENST00000471180.5:c.642C>T	ENSP00000417526.1:p.Gly214=
ENST00000473032.5:c.537C>T	ENSP00000418951.1:p.Gly179=
ENST00000486393.5:c.*862C>T	ENSP00000419868.1:n.*862C>T
ENST00000489173.1:n.1793C>T
NM_145262.3:c.1499C>T	NP_660305.2:p.Ala500Val
NR_026699.1:n.1597C>T
NR_026700.1:n.703C>T
NR_026701.1:n.1595C>T
NR_026702.1:n.633C>T
XM_005264878.2:c.*618C>T	XP_005264935.1:n.*618C>T
XR_245095.2:n.2750C>T
XM_017005730.1:c.1118C>T	XP_016861219.1:p.Ala373Val
XM_024453351.1:c.1499C>T	XP_024309119.1:p.Ala500Val
XM_024453352.1:c.*618C>T	XP_024309120.1:n.*618C>T
XR_001740022.2:n.3401C>T
XR_001740023.2:n.2925C>T
XR_245095.4:n.2751C>T
NM_145262.4:c.1499C>T MANE Select	NP_660305.2:p.Ala500Val
NR_026699.2:n.1589C>T
NR_026700.2:n.695C>T
NR_026701.2:n.1587C>T
NR_026702.2:n.625C>T
NM_001144951.2:c.*618C>T	NP_001138423.1:n.*618C>T