Canonical Allele Identifier: CA353076724

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1198537379
• gnomAD v2: 3-52327100-C-T
• MyVariant Identifiers: chr3:g.52327100C>T (hg19) ; chr3:g.52293084C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293084C>T , CM000665.2:g.52293084C>T	GRCh38
NC_000003.11:g.52327100C>T , CM000665.1:g.52327100C>T	GRCh37
NC_000003.10:g.52302140C>T	NCBI36
NG_023246.1:g.10265C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1530C>T MANE Select	ENSP00000389175.2:p.Thr510=
ENST00000436784.6:c.1530C>T	ENSP00000389175.2:p.Thr510=
ENST00000461183.5:c.802C>T	ENSP00000417264.1:p.Gln268Ter
ENST00000471180.5:c.673C>T	ENSP00000417526.1:p.Gln225Ter
ENST00000473032.5:c.568C>T	ENSP00000418951.1:p.Gln190Ter
ENST00000486393.5:c.*893C>T	ENSP00000419868.1:n.*893C>T
ENST00000489173.1:n.1824C>T
NM_145262.3:c.1530C>T	NP_660305.2:p.Thr510=
NR_026699.1:n.1628C>T
NR_026700.1:n.734C>T
NR_026701.1:n.1626C>T
NR_026702.1:n.664C>T
XM_005264878.2:c.*649C>T	XP_005264935.1:n.*649C>T
XR_245095.2:n.2781C>T
XM_017005730.1:c.1149C>T	XP_016861219.1:p.Thr383=
XM_024453351.1:c.1530C>T	XP_024309119.1:p.Thr510=
XM_024453352.1:c.*649C>T	XP_024309120.1:n.*649C>T
XR_001740022.2:n.3432C>T
XR_001740023.2:n.2956C>T
XR_245095.4:n.2782C>T
NM_145262.4:c.1530C>T MANE Select	NP_660305.2:p.Thr510=
NR_026699.2:n.1620C>T
NR_026700.2:n.726C>T
NR_026701.2:n.1618C>T
NR_026702.2:n.656C>T
NM_001144951.2:c.*649C>T	NP_001138423.1:n.*649C>T