Canonical Allele Identifier: CA353076849

Gene: GLYCTK

Linked Data

• MyVariant Identifiers: chr3:g.52327123T>C (hg19) ; chr3:g.52293107T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293107T>C , CM000665.2:g.52293107T>C	GRCh38
NC_000003.11:g.52327123T>C , CM000665.1:g.52327123T>C	GRCh37
NC_000003.10:g.52302163T>C	NCBI36
NG_023246.1:g.10288T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1553T>C MANE Select	ENSP00000389175.2:p.Leu518Ser
ENST00000436784.6:c.1553T>C	ENSP00000389175.2:p.Leu518Ser
ENST00000461183.5:c.825T>C	ENSP00000417264.1:p.Leu275=
ENST00000471180.5:c.696T>C	ENSP00000417526.1:p.Leu232=
ENST00000473032.5:c.591T>C	ENSP00000418951.1:p.Leu197=
ENST00000486393.5:c.*916T>C	ENSP00000419868.1:n.*916T>C
ENST00000489173.1:n.1847T>C
NM_145262.3:c.1553T>C	NP_660305.2:p.Leu518Ser
NR_026699.1:n.1651T>C
NR_026700.1:n.757T>C
NR_026701.1:n.1649T>C
NR_026702.1:n.687T>C
XM_005264878.2:c.*672T>C	XP_005264935.1:n.*672T>C
XR_245095.2:n.2804T>C
XM_017005730.1:c.1172T>C	XP_016861219.1:p.Leu391Ser
XM_024453351.1:c.1553T>C	XP_024309119.1:p.Leu518Ser
XM_024453352.1:c.*672T>C	XP_024309120.1:n.*672T>C
XR_001740022.2:n.3455T>C
XR_001740023.2:n.2979T>C
XR_245095.4:n.2805T>C
NM_145262.4:c.1553T>C MANE Select	NP_660305.2:p.Leu518Ser
NR_026699.2:n.1643T>C
NR_026700.2:n.749T>C
NR_026701.2:n.1641T>C
NR_026702.2:n.679T>C
NM_001144951.2:c.*672T>C	NP_001138423.1:n.*672T>C