Canonical Allele Identifier: CA353076843

Gene: GLYCTK

Linked Data

• MyVariant Identifiers: chr3:g.52327122T>C (hg19) ; chr3:g.52293106T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293106T>C , CM000665.2:g.52293106T>C	GRCh38
NC_000003.11:g.52327122T>C , CM000665.1:g.52327122T>C	GRCh37
NC_000003.10:g.52302162T>C	NCBI36
NG_023246.1:g.10287T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1552T>C MANE Select	ENSP00000389175.2:p.Leu518=
ENST00000436784.6:c.1552T>C	ENSP00000389175.2:p.Leu518=
ENST00000461183.5:c.824T>C	ENSP00000417264.1:p.Leu275Pro
ENST00000471180.5:c.695T>C	ENSP00000417526.1:p.Leu232Pro
ENST00000473032.5:c.590T>C	ENSP00000418951.1:p.Leu197Pro
ENST00000486393.5:c.*915T>C	ENSP00000419868.1:n.*915T>C
ENST00000489173.1:n.1846T>C
NM_145262.3:c.1552T>C	NP_660305.2:p.Leu518=
NR_026699.1:n.1650T>C
NR_026700.1:n.756T>C
NR_026701.1:n.1648T>C
NR_026702.1:n.686T>C
XM_005264878.2:c.*671T>C	XP_005264935.1:n.*671T>C
XR_245095.2:n.2803T>C
XM_017005730.1:c.1171T>C	XP_016861219.1:p.Leu391=
XM_024453351.1:c.1552T>C	XP_024309119.1:p.Leu518=
XM_024453352.1:c.*671T>C	XP_024309120.1:n.*671T>C
XR_001740022.2:n.3454T>C
XR_001740023.2:n.2978T>C
XR_245095.4:n.2804T>C
NM_145262.4:c.1552T>C MANE Select	NP_660305.2:p.Leu518=
NR_026699.2:n.1642T>C
NR_026700.2:n.748T>C
NR_026701.2:n.1640T>C
NR_026702.2:n.678T>C
NM_001144951.2:c.*671T>C	NP_001138423.1:n.*671T>C