Canonical Allele Identifier: CA353076746

Gene: GLYCTK

Linked Data

• MyVariant Identifiers: chr3:g.52327105T>C (hg19) ; chr3:g.52293089T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293089T>C , CM000665.2:g.52293089T>C	GRCh38
NC_000003.11:g.52327105T>C , CM000665.1:g.52327105T>C	GRCh37
NC_000003.10:g.52302145T>C	NCBI36
NG_023246.1:g.10270T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1535T>C MANE Select	ENSP00000389175.2:p.Val512Ala
ENST00000436784.6:c.1535T>C	ENSP00000389175.2:p.Val512Ala
ENST00000461183.5:c.807T>C	ENSP00000417264.1:p.Cys269=
ENST00000471180.5:c.678T>C	ENSP00000417526.1:p.Cys226=
ENST00000473032.5:c.573T>C	ENSP00000418951.1:p.Cys191=
ENST00000486393.5:c.*898T>C	ENSP00000419868.1:n.*898T>C
ENST00000489173.1:n.1829T>C
NM_145262.3:c.1535T>C	NP_660305.2:p.Val512Ala
NR_026699.1:n.1633T>C
NR_026700.1:n.739T>C
NR_026701.1:n.1631T>C
NR_026702.1:n.669T>C
XM_005264878.2:c.*654T>C	XP_005264935.1:n.*654T>C
XR_245095.2:n.2786T>C
XM_017005730.1:c.1154T>C	XP_016861219.1:p.Val385Ala
XM_024453351.1:c.1535T>C	XP_024309119.1:p.Val512Ala
XM_024453352.1:c.*654T>C	XP_024309120.1:n.*654T>C
XR_001740022.2:n.3437T>C
XR_001740023.2:n.2961T>C
XR_245095.4:n.2787T>C
NM_145262.4:c.1535T>C MANE Select	NP_660305.2:p.Val512Ala
NR_026699.2:n.1625T>C
NR_026700.2:n.731T>C
NR_026701.2:n.1623T>C
NR_026702.2:n.661T>C
NM_001144951.2:c.*654T>C	NP_001138423.1:n.*654T>C