Canonical Allele Identifier: CA8424593
Gene: MYO15A HGNC NCBI

Linked Data

dbSNP Id: rs750451490
ExAC: 17:18049380 T / G
gnomAD v2: 17-18049380-T-G
gnomAD v4: 17-18146066-T-G
MyVariant Identifiers: chr17:g.18049380T>G (hg19) chr17:g.18146066T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146066T>G , CM000679.2:g.18146066T>G GRCh38
NC_000017.10:g.18049380T>G , CM000679.1:g.18049380T>G GRCh37
NC_000017.9:g.17990105T>G NCBI36
NG_011634.1:g.42361T>G
NG_011634.2:g.42361T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6468T>G MANE Select ENSP00000495481.1:p.Ser2156Arg
ENST00000205890.9:c.6468T>G ENSP00000205890.5:p.Ser2156Arg
ENST00000578999.1:n.53T>G
ENST00000615845.4:c.6468T>G ENSP00000481642.1:p.Ser2156Arg
NM_016239.3:c.6468T>G NP_057323.3:p.Ser2156Arg
XM_011523917.1:c.6408T>G XP_011522219.1:p.Ser2136Arg
XM_011523918.1:c.6342+66T>G XP_011522220.1:n.6342+66T>G
XM_011523921.1:c.6462T>G XP_011522223.1:p.Ser2154Arg
XR_934037.1:n.7067T>G
XR_934038.1:n.7067T>G
XM_011523918.2:c.6342+66T>G XP_011522220.1:n.6342+66T>G
XM_017024714.2:c.6408T>G XP_016880203.1:p.Ser2136Arg
XM_017024715.2:c.6471T>G XP_016880204.1:p.Ser2157Arg
XM_024450781.1:c.6213+1474T>G XP_024306549.1:n.6213+1474T>G
NM_016239.4:c.6468T>G MANE Select NP_057323.3:p.Ser2156Arg
Search 100 bp 5'
Search 100 bp 3'