Canonical Allele Identifier: CA182352
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 178447
ClinVar RCV Id: RCV000155195 RCV000827086
dbSNP Id: rs76886140
ExAC: 17:18049248 C / T
gnomAD v2: 17-18049248-C-T
gnomAD v3: 17-18145934-C-T
gnomAD v4: 17-18145934-C-T
MyVariant Identifiers: chr17:g.18049248C>T (hg19) chr17:g.18145934C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145934C>T , CM000679.2:g.18145934C>T GRCh38
NC_000017.10:g.18049248C>T , CM000679.1:g.18049248C>T GRCh37
NC_000017.9:g.17989973C>T NCBI36
NG_011634.1:g.42229C>T
NG_011634.2:g.42229C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6336C>T MANE Select ENSP00000495481.1:p.Tyr2112=
ENST00000205890.9:c.6336C>T ENSP00000205890.5:p.Tyr2112=
ENST00000615845.4:c.6336C>T ENSP00000481642.1:p.Tyr2112=
NM_016239.3:c.6336C>T NP_057323.3:p.Tyr2112=
XM_011523917.1:c.6276C>T XP_011522219.1:p.Tyr2092=
XM_011523918.1:c.6276C>T XP_011522220.1:p.Tyr2092=
XM_011523921.1:c.6330C>T XP_011522223.1:p.Tyr2110=
XR_934037.1:n.6935C>T
XR_934038.1:n.6935C>T
XM_011523918.2:c.6276C>T XP_011522220.1:p.Tyr2092=
XM_017024714.2:c.6276C>T XP_016880203.1:p.Tyr2092=
XM_017024715.2:c.6339C>T XP_016880204.1:p.Tyr2113=
XM_024450781.1:c.6213+1342C>T XP_024306549.1:n.6213+1342C>T
NM_016239.4:c.6336C>T MANE Select NP_057323.3:p.Tyr2112=
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Search 100 bp 3'