Canonical Allele Identifier: CA288407369
Gene: MYO15A HGNC NCBI

Linked Data

dbSNP Id: rs757273401
gnomAD v4: 17-18145937-C-G
MyVariant Identifiers: chr17:g.18049251C>G (hg19) chr17:g.18145937C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145937C>G , CM000679.2:g.18145937C>G GRCh38
NC_000017.10:g.18049251C>G , CM000679.1:g.18049251C>G GRCh37
NC_000017.9:g.17989976C>G NCBI36
NG_011634.1:g.42232C>G
NG_011634.2:g.42232C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6339C>G MANE Select ENSP00000495481.1:p.Ile2113Met
ENST00000205890.9:c.6339C>G ENSP00000205890.5:p.Ile2113Met
ENST00000615845.4:c.6339C>G ENSP00000481642.1:p.Ile2113Met
NM_016239.3:c.6339C>G NP_057323.3:p.Ile2113Met
XM_011523917.1:c.6279C>G XP_011522219.1:p.Ile2093Met
XM_011523918.1:c.6279C>G XP_011522220.1:p.Ile2093Met
XM_011523921.1:c.6333C>G XP_011522223.1:p.Ile2111Met
XR_934037.1:n.6938C>G
XR_934038.1:n.6938C>G
XM_011523918.2:c.6279C>G XP_011522220.1:p.Ile2093Met
XM_017024714.2:c.6279C>G XP_016880203.1:p.Ile2093Met
XM_017024715.2:c.6342C>G XP_016880204.1:p.Ile2114Met
XM_024450781.1:c.6213+1345C>G XP_024306549.1:n.6213+1345C>G
NM_016239.4:c.6339C>G MANE Select NP_057323.3:p.Ile2113Met
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