Canonical Allele Identifier: CA8423923
Gene: MYO15A HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18135747C>G , CM000679.2:g.18135747C>G GRCh38
NC_000017.10:g.18039061C>G , CM000679.1:g.18039061C>G GRCh37
NC_000017.9:g.17979786C>G NCBI36
NG_011634.1:g.32042C>G
NG_011634.2:g.32042C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.4519C>G MANE Select ENSP00000495481.1:p.Arg1507Gly
ENST00000205890.9:c.4519C>G ENSP00000205890.5:p.Arg1507Gly
ENST00000615845.4:c.4519C>G ENSP00000481642.1:p.Arg1507Gly
NM_016239.3:c.4519C>G NP_057323.3:p.Arg1507Gly
XM_011523917.1:c.4513C>G XP_011522219.1:p.Arg1505Gly
XM_011523918.1:c.4513C>G XP_011522220.1:p.Arg1505Gly
XM_011523919.1:c.4513C>G XP_011522221.1:p.Arg1505Gly
XM_011523920.1:c.4513C>G XP_011522222.1:p.Arg1505Gly
XM_011523921.1:c.4513C>G XP_011522223.1:p.Arg1505Gly
XR_934037.1:n.5172C>G
XR_934038.1:n.5172C>G
XR_934039.1:n.5172C>G
XM_011523918.2:c.4513C>G XP_011522220.1:p.Arg1505Gly
XM_017024714.2:c.4513C>G XP_016880203.1:p.Arg1505Gly
XM_017024715.2:c.4522C>G XP_016880204.1:p.Arg1508Gly
XM_024450780.1:c.4513C>G XP_024306548.1:p.Arg1505Gly
XM_024450781.1:c.4513C>G XP_024306549.1:p.Arg1505Gly
XM_024450782.1:c.4513C>G XP_024306550.1:p.Arg1505Gly
XR_934039.2:n.5211C>G
NM_016239.4:c.4519C>G MANE Select NP_057323.3:p.Arg1507Gly