Canonical Allele Identifier: CA353076119

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1700531984
• MyVariant Identifiers: chr3:g.52326970C>T (hg19) ; chr3:g.52292954C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292954C>T , CM000665.2:g.52292954C>T	GRCh38
NC_000003.11:g.52326970C>T , CM000665.1:g.52326970C>T	GRCh37
NC_000003.10:g.52302010C>T	NCBI36
NG_023246.1:g.10135C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1400C>T MANE Select	ENSP00000389175.2:p.Pro467Leu
ENST00000305690.12:c.*519C>T	ENSP00000301965.9:n.*519C>T
ENST00000436784.6:c.1400C>T	ENSP00000389175.2:p.Pro467Leu
ENST00000461183.5:c.764-92C>T	ENSP00000417264.1:n.764-92C>T
ENST00000471180.5:c.635-92C>T	ENSP00000417526.1:n.635-92C>T
ENST00000473032.5:c.530-92C>T	ENSP00000418951.1:n.530-92C>T
ENST00000477382.1:c.*519C>T	ENSP00000419008.1:n.*519C>T
ENST00000486393.5:c.*763C>T	ENSP00000419868.1:n.*763C>T
ENST00000489173.1:n.1694C>T
NM_001144951.1:c.*519C>T	NP_001138423.1:n.*519C>T
NM_145262.3:c.1400C>T	NP_660305.2:p.Pro467Leu
NR_026699.1:n.1498C>T
NR_026700.1:n.696-92C>T
NR_026701.1:n.1496C>T
NR_026702.1:n.626-92C>T
XM_005264878.2:c.*519C>T	XP_005264935.1:n.*519C>T
XR_245095.2:n.2743-92C>T
XM_017005730.1:c.1019C>T	XP_016861219.1:p.Pro340Leu
XM_024453351.1:c.1400C>T	XP_024309119.1:p.Pro467Leu
XM_024453352.1:c.*519C>T	XP_024309120.1:n.*519C>T
XR_001740022.2:n.3302C>T
XR_001740023.2:n.2918-92C>T
XR_245095.4:n.2744-92C>T
NM_145262.4:c.1400C>T MANE Select	NP_660305.2:p.Pro467Leu
NR_026699.2:n.1490C>T
NR_026700.2:n.688-92C>T
NR_026701.2:n.1488C>T
NR_026702.2:n.618-92C>T
NM_001144951.2:c.*519C>T	NP_001138423.1:n.*519C>T