Canonical Allele Identifier: CA2250897740
Community Standard Title: NM_016239.4(MYO15A):c.10136C= (p.Ser3379=)
Gene: MYO15A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18171691C= , CM000679.2:g.18171691C= GRCh38
NC_000017.10:g.18075005C= , CM000679.1:g.18075005C= GRCh37
NC_000017.9:g.18015730C= NCBI36
NG_011634.1:g.67986C=
NG_011634.2:g.67986C=

Transcript Alleles

HGVS Amino-acid Change
NM_016239.4:c.10136C= MANE Select NP_057323.3:p.Ser3379=
ENST00000647165.2:c.10136C= MANE Select ENSP00000495481.1:p.Ser3379=
NM_016239.3:c.10136C= NP_057323.3:p.Ser3379=
ENST00000205890.9:c.10136C= ENSP00000205890.5:p.Ser3379=
ENST00000418233.7:c.1928C= ENSP00000408800.3:p.Ser643=
ENST00000433411.7:n.1586C=
ENST00000445289.6:n.905C=
ENST00000578575.1:c.678C=
ENST00000579848.6:c.556C= ENSP00000465910.1:p.Arg186=
ENST00000615845.4:c.10136C= ENSP00000481642.1:p.Ser3379=
ENST00000642418.1:n.2540C=
ENST00000643693.1:n.2078C=
ENST00000644795.1:c.1928C= ENSP00000495720.1:p.Ser643=
ENST00000646782.1:n.2870C=
ENST00000651214.1:n.2567C=
XM_011523921.1:c.10130C= XP_011522223.1:p.Ser3377=
XM_017024714.2:c.10076C= XP_016880203.1:p.Ser3359=
XM_017024715.2:c.10139C= XP_016880204.1:p.Ser3380=