Canonical Allele Identifier: CA8410337
Community Standard Title: NM_018955.4(UBB):c.297C>T (p.Ile99=)
Gene: UBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16382204C>T , CM000679.2:g.16382204C>T GRCh38
NC_000017.10:g.16285518C>T , CM000679.1:g.16285518C>T GRCh37
NC_000017.9:g.16226243C>T NCBI36
NG_023320.1:g.6152C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018955.4:c.297C>T MANE Select NP_061828.1:p.Ile99=
ENST00000302182.8:c.297C>T MANE Select ENSP00000304697.3:p.Ile99=
NM_001281716.1:c.297C>T NP_001268645.1:p.Ile99=
NM_001281716.2:c.297C>T NP_001268645.1:p.Ile99=
NM_001281717.1:c.297C>T NP_001268646.1:p.Ile99=
NM_001281718.1:c.297C>T NP_001268647.1:p.Ile99=
NM_001281719.1:c.297C>T NP_001268648.1:p.Ile99=
NM_001281720.1:c.297C>T NP_001268649.1:p.Ile99=
NM_001281720.2:c.297C>T NP_001268649.1:p.Ile99=
NM_018955.3:c.297C>T NP_061828.1:p.Ile99=
ENST00000302182.7:c.297C>T ENSP00000304697.3:p.Ile99=
ENST00000395837.1:c.297C>T ENSP00000379178.1:p.Ile99=
ENST00000395839.5:c.297C>T ENSP00000379180.1:p.Ile99=
ENST00000535788.1:c.223+74C>T ENSP00000437475.1:n.223+74C>T
ENST00000577640.1:c.297C>T ENSP00000463156.1:p.Ile99=
ENST00000578649.1:n.91-155C>T
ENST00000614404.1:c.297C>T ENSP00000478771.1:p.Ile99=