Canonical Allele Identifier: CA433882889
Gene: GLYCTK HGNC NCBI

Linked Data

gnomAD v4: 3-52292889-G-T
MyVariant Identifiers: chr3:g.52326905G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52292889G>T , CM000665.2:g.52292889G>T GRCh38
NC_000003.11:g.52326905G>T , CM000665.1:g.52326905G>T GRCh37
NC_000003.10:g.52301945G>T NCBI36
NG_023246.1:g.10070G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000436784.7:c.1335G>T MANE Select ENSP00000389175.2:p.Leu445=
ENST00000305690.12:c.*454G>T ENSP00000301965.9:n.*454G>T
ENST00000436784.6:c.1335G>T ENSP00000389175.2:p.Leu445=
ENST00000461183.5:c.764-157G>T ENSP00000417264.1:n.764-157G>T
ENST00000471180.5:c.635-157G>T ENSP00000417526.1:n.635-157G>T
ENST00000473032.5:c.530-157G>T ENSP00000418951.1:n.530-157G>T
ENST00000477382.1:c.*454G>T ENSP00000419008.1:n.*454G>T
ENST00000486393.5:c.*698G>T ENSP00000419868.1:n.*698G>T
ENST00000489173.1:n.1629G>T
NM_001144951.1:c.*454G>T NP_001138423.1:n.*454G>T
NM_145262.3:c.1335G>T NP_660305.2:p.Leu445=
NR_026699.1:n.1433G>T
NR_026700.1:n.696-157G>T
NR_026701.1:n.1431G>T
NR_026702.1:n.626-157G>T
XM_005264878.2:c.*454G>T XP_005264935.1:n.*454G>T
XR_245095.2:n.2743-157G>T
XM_017005730.1:c.954G>T XP_016861219.1:p.Leu318=
XM_024453351.1:c.1335G>T XP_024309119.1:p.Leu445=
XM_024453352.1:c.*454G>T XP_024309120.1:n.*454G>T
XR_001740022.2:n.3237G>T
XR_001740023.2:n.2918-157G>T
XR_245095.4:n.2744-157G>T
NM_145262.4:c.1335G>T MANE Select NP_660305.2:p.Leu445=
NR_026699.2:n.1425G>T
NR_026700.2:n.688-157G>T
NR_026701.2:n.1423G>T
NR_026702.2:n.618-157G>T
NM_001144951.2:c.*454G>T NP_001138423.1:n.*454G>T