Canonical Allele Identifier: CA2432043
Community Standard Title: NM_145262.4(GLYCTK):c.365G>A (p.Arg122His)
Gene: GLYCTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52290707G>A , CM000665.2:g.52290707G>A GRCh38
NC_000003.11:g.52324723G>A , CM000665.1:g.52324723G>A GRCh37
NC_000003.10:g.52299763G>A NCBI36
NG_023246.1:g.7888G>A

Transcript Alleles

HGVS Amino-acid Change
NM_145262.4:c.365G>A MANE Select NP_660305.2:p.Arg122His
ENST00000436784.7:c.365G>A MANE Select ENSP00000389175.2:p.Arg122His
NM_001144951.1:c.365G>A NP_001138423.1:p.Arg122His
NM_001144951.2:c.365G>A NP_001138423.1:p.Arg122His
NM_145262.3:c.365G>A NP_660305.2:p.Arg122His
NR_026699.1:n.461G>A
NR_026699.2:n.453G>A
NR_026700.1:n.58-253G>A
NR_026700.2:n.50-253G>A
NR_026701.1:n.461G>A
NR_026701.2:n.453G>A
NR_026702.1:n.461G>A
NR_026702.2:n.453G>A
ENST00000305690.12:c.365G>A ENSP00000301965.9:p.Arg122His
ENST00000436784.6:c.365G>A ENSP00000389175.2:p.Arg122His
ENST00000461183.5:c.126-253G>A ENSP00000417264.1:n.126-253G>A
ENST00000471180.5:c.-4-253G>A ENSP00000417526.1:n.-4-253G>A
ENST00000473032.5:c.365G>A ENSP00000418951.1:p.Arg122His
ENST00000473583.1:n.634G>A
ENST00000477382.1:c.365G>A ENSP00000419008.1:p.Arg122His
ENST00000486393.5:c.365G>A ENSP00000419868.1:p.Arg122His
ENST00000489173.1:n.24G>A
XM_005264878.2:c.365G>A XP_005264935.1:p.Arg122His
XM_017005730.1:c.-4-253G>A XP_016861219.1:n.-4-253G>A
XM_024453351.1:c.365G>A XP_024309119.1:p.Arg122His
XM_024453352.1:c.365G>A XP_024309120.1:p.Arg122His
XR_001740022.2:n.2267G>A
XR_001740023.2:n.2267G>A
XR_245095.2:n.2268G>A
XR_245095.4:n.2269G>A