Canonical Allele Identifier: CA398636215
Gene: MYO15A HGNC NCBI

Linked Data

dbSNP Id: rs2046773360
gnomAD v4: 17-18161343-T-A
MyVariant Identifiers: chr17:g.18064657T>A (hg19) chr17:g.18161343T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18161343T>A , CM000679.2:g.18161343T>A GRCh38
NC_000017.10:g.18064657T>A , CM000679.1:g.18064657T>A GRCh37
NC_000017.9:g.18005382T>A NCBI36
NG_011634.1:g.57638T>A
NG_011634.2:g.57638T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642418.1:n.1677T>A
ENST00000643693.1:n.1215T>A
ENST00000644795.1:c.1205T>A ENSP00000495720.1:p.Leu402Gln
ENST00000646782.1:n.2147T>A
ENST00000647165.2:c.9413T>A MANE Select ENSP00000495481.1:p.Leu3138Gln
ENST00000651214.1:n.1844T>A
ENST00000205890.9:c.9413T>A ENSP00000205890.5:p.Leu3138Gln
ENST00000418233.7:c.1205T>A ENSP00000408800.3:p.Leu402Gln
ENST00000433411.7:n.863T>A
ENST00000445289.6:n.343T>A
ENST00000473013.1:n.597T>A
ENST00000556535.5:c.275T>A ENSP00000451782.1:p.Leu92Gln
ENST00000557190.5:n.241T>A
ENST00000557655.5:c.*93T>A ENSP00000451925.1:n.*93T>A
ENST00000578472.5:c.275T>A ENSP00000467989.1:p.Leu92Gln
ENST00000579848.6:c.128T>A ENSP00000465910.1:p.Leu43Gln
ENST00000615845.4:c.9413T>A ENSP00000481642.1:p.Leu3138Gln
NM_016239.3:c.9413T>A NP_057323.3:p.Leu3138Gln
XM_011523921.1:c.9407T>A XP_011522223.1:p.Leu3136Gln
XM_017024714.2:c.9353T>A XP_016880203.1:p.Leu3118Gln
XM_017024715.2:c.9416T>A XP_016880204.1:p.Leu3139Gln
NM_016239.4:c.9413T>A MANE Select NP_057323.3:p.Leu3138Gln
Search 100 bp 5'
Search 100 bp 3'