Canonical Allele Identifier: CA398633743
Gene: MYO15A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18159293C>G , CM000679.2:g.18159293C>G GRCh38
NC_000017.10:g.18062607C>G , CM000679.1:g.18062607C>G GRCh37
NC_000017.9:g.18003332C>G NCBI36
NG_011634.1:g.55588C>G
NG_011634.2:g.55588C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642418.1:n.1513C>G
ENST00000643693.1:n.977C>G
ENST00000644795.1:c.967C>G ENSP00000495720.1:p.Leu323Val
ENST00000646782.1:n.1909C>G
ENST00000647165.2:c.9175C>G MANE Select ENSP00000495481.1:p.Leu3059Val
ENST00000651214.1:n.1680C>G
ENST00000205890.9:c.9175C>G ENSP00000205890.5:p.Leu3059Val
ENST00000418233.7:c.967C>G ENSP00000408800.3:p.Leu323Val
ENST00000433411.7:n.112C>G
ENST00000445289.6:n.316+1393C>G
ENST00000556535.5:c.37C>G ENSP00000451782.1:p.Leu13Val
ENST00000557190.5:n.77C>G
ENST00000557655.5:c.37C>G ENSP00000451925.1:p.Leu13Val
ENST00000578472.5:c.37C>G ENSP00000467989.1:p.Leu13Val
ENST00000615845.4:c.9175C>G ENSP00000481642.1:p.Leu3059Val
NM_016239.3:c.9175C>G NP_057323.3:p.Leu3059Val
XM_011523921.1:c.9169C>G XP_011522223.1:p.Leu3057Val
XM_017024714.2:c.9115C>G XP_016880203.1:p.Leu3039Val
XM_017024715.2:c.9178C>G XP_016880204.1:p.Leu3060Val
NM_016239.4:c.9175C>G MANE Select NP_057323.3:p.Leu3059Val