Canonical Allele Identifier: CA498203521
Community Standard Title: NM_016239.4(MYO15A):c.8767C>A (p.Arg2923=)
Gene: MYO15A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18157209C>A , CM000679.2:g.18157209C>A GRCh38
NC_000017.10:g.18060523C>A , CM000679.1:g.18060523C>A GRCh37
NC_000017.9:g.18001248C>A NCBI36
NG_011634.1:g.53504C>A
NG_011634.2:g.53504C>A

Transcript Alleles

HGVS Amino-acid Change
NM_016239.4:c.8767C>A MANE Select NP_057323.3:p.Arg2923=
ENST00000647165.2:c.8767C>A MANE Select ENSP00000495481.1:p.Arg2923=
NM_016239.3:c.8767C>A NP_057323.3:p.Arg2923=
ENST00000205890.9:c.8767C>A ENSP00000205890.5:p.Arg2923=
ENST00000418233.7:c.559C>A ENSP00000408800.3:p.Arg187=
ENST00000445289.6:n.138-513C>A
ENST00000536811.5:n.680C>A
ENST00000615845.4:c.8767C>A ENSP00000481642.1:p.Arg2923=
ENST00000642418.1:n.614C>A
ENST00000643693.1:n.587C>A
ENST00000644795.1:c.559C>A ENSP00000495720.1:p.Arg187=
ENST00000646782.1:n.1010C>A
ENST00000651214.1:n.913C>A
XM_011523921.1:c.8761C>A XP_011522223.1:p.Arg2921=
XM_017024714.2:c.8707C>A XP_016880203.1:p.Arg2903=
XM_017024715.2:c.8770C>A XP_016880204.1:p.Arg2924=