Canonical Allele Identifier: CA353076739

Gene: GLYCTK

Linked Data

• MyVariant Identifiers: chr3:g.52327104G>C (hg19) ; chr3:g.52293088G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293088G>C , CM000665.2:g.52293088G>C	GRCh38
NC_000003.11:g.52327104G>C , CM000665.1:g.52327104G>C	GRCh37
NC_000003.10:g.52302144G>C	NCBI36
NG_023246.1:g.10269G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1534G>C MANE Select	ENSP00000389175.2:p.Val512Leu
ENST00000436784.6:c.1534G>C	ENSP00000389175.2:p.Val512Leu
ENST00000461183.5:c.806G>C	ENSP00000417264.1:p.Cys269Ser
ENST00000471180.5:c.677G>C	ENSP00000417526.1:p.Cys226Ser
ENST00000473032.5:c.572G>C	ENSP00000418951.1:p.Cys191Ser
ENST00000486393.5:c.*897G>C	ENSP00000419868.1:n.*897G>C
ENST00000489173.1:n.1828G>C
NM_145262.3:c.1534G>C	NP_660305.2:p.Val512Leu
NR_026699.1:n.1632G>C
NR_026700.1:n.738G>C
NR_026701.1:n.1630G>C
NR_026702.1:n.668G>C
XM_005264878.2:c.*653G>C	XP_005264935.1:n.*653G>C
XR_245095.2:n.2785G>C
XM_017005730.1:c.1153G>C	XP_016861219.1:p.Val385Leu
XM_024453351.1:c.1534G>C	XP_024309119.1:p.Val512Leu
XM_024453352.1:c.*653G>C	XP_024309120.1:n.*653G>C
XR_001740022.2:n.3436G>C
XR_001740023.2:n.2960G>C
XR_245095.4:n.2786G>C
NM_145262.4:c.1534G>C MANE Select	NP_660305.2:p.Val512Leu
NR_026699.2:n.1624G>C
NR_026700.2:n.730G>C
NR_026701.2:n.1622G>C
NR_026702.2:n.660G>C
NM_001144951.2:c.*653G>C	NP_001138423.1:n.*653G>C