Canonical Allele Identifier: CA398607233
Gene: MYO15A HGNC NCBI

Linked Data

gnomAD v4: 17-18146064-A-C
MyVariant Identifiers: chr17:g.18049378A>C (hg19) chr17:g.18146064A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146064A>C , CM000679.2:g.18146064A>C GRCh38
NC_000017.10:g.18049378A>C , CM000679.1:g.18049378A>C GRCh37
NC_000017.9:g.17990103A>C NCBI36
NG_011634.1:g.42359A>C
NG_011634.2:g.42359A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6466A>C MANE Select ENSP00000495481.1:p.Ser2156Arg
ENST00000205890.9:c.6466A>C ENSP00000205890.5:p.Ser2156Arg
ENST00000578999.1:n.51A>C
ENST00000615845.4:c.6466A>C ENSP00000481642.1:p.Ser2156Arg
NM_016239.3:c.6466A>C NP_057323.3:p.Ser2156Arg
XM_011523917.1:c.6406A>C XP_011522219.1:p.Ser2136Arg
XM_011523918.1:c.6342+64A>C XP_011522220.1:n.6342+64A>C
XM_011523921.1:c.6460A>C XP_011522223.1:p.Ser2154Arg
XR_934037.1:n.7065A>C
XR_934038.1:n.7065A>C
XM_011523918.2:c.6342+64A>C XP_011522220.1:n.6342+64A>C
XM_017024714.2:c.6406A>C XP_016880203.1:p.Ser2136Arg
XM_017024715.2:c.6469A>C XP_016880204.1:p.Ser2157Arg
XM_024450781.1:c.6213+1472A>C XP_024306549.1:n.6213+1472A>C
NM_016239.4:c.6466A>C MANE Select NP_057323.3:p.Ser2156Arg
Search 100 bp 5'
Search 100 bp 3'