Canonical Allele Identifier: CA8425624
Gene: MYO15A HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18163251G>A , CM000679.2:g.18163251G>A GRCh38
NC_000017.10:g.18066565G>A , CM000679.1:g.18066565G>A GRCh37
NC_000017.9:g.18007290G>A NCBI36
NG_011634.1:g.59546G>A
NG_011634.2:g.59546G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642418.1:n.1884G>A
ENST00000643693.1:n.1422G>A
ENST00000644795.1:c.1412G>A ENSP00000495720.1:p.Arg471His
ENST00000646782.1:n.2354G>A
ENST00000647165.2:c.9620G>A MANE Select ENSP00000495481.1:p.Arg3207His
ENST00000651214.1:n.2051G>A
ENST00000205890.9:c.9620G>A ENSP00000205890.5:p.Arg3207His
ENST00000418233.7:c.1412G>A ENSP00000408800.3:p.Arg471His
ENST00000433411.7:n.1070G>A
ENST00000445289.6:n.550G>A
ENST00000473013.1:n.804G>A
ENST00000557190.5:n.448G>A
ENST00000557655.5:c.*300G>A ENSP00000451925.1:n.*300G>A
ENST00000578575.1:c.183G>A
ENST00000579848.6:c.335G>A ENSP00000465910.1:p.Arg112His
ENST00000615845.4:c.9620G>A ENSP00000481642.1:p.Arg3207His
NM_016239.3:c.9620G>A NP_057323.3:p.Arg3207His
XM_011523921.1:c.9614G>A XP_011522223.1:p.Arg3205His
XM_017024714.2:c.9560G>A XP_016880203.1:p.Arg3187His
XM_017024715.2:c.9623G>A XP_016880204.1:p.Arg3208His
NM_016239.4:c.9620G>A MANE Select NP_057323.3:p.Arg3207His