Canonical Allele Identifier: CA273546
Gene: MYO15A HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.18157155G>A
GRCh37 chr17:g.18060469G>A
gnomAD v2:
17:18060469 G / A
gnomAD v3:
17:18157155 G / A
gnomAD v4:
chr17-18157155-G-A
Joint Max Group AF 0.00016579 (AFR)
Genomes Max Group AF 0.00007888 (AFR)
Exomes Max Group AF 0.00020659 (AFR)
ClinVar Allele:
176480
ClinVar RCV:
RCV000155197
RCV000477929
RCV002514987
ClinVar Variation:
178449
dbSNP:
377015931
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18157155G>A , CM000679.2:g.18157155G>A GRCh38
NC_000017.10:g.18060469G>A , CM000679.1:g.18060469G>A GRCh37
NC_000017.9:g.18001194G>A NCBI36
NG_011634.1:g.53450G>A
NG_011634.2:g.53450G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642418.1:n.561-1G>A
ENST00000643693.1:n.534-1G>A
ENST00000644795.1:c.506-1G>A ENSP00000495720.1:n.506-1G>A
ENST00000646782.1:n.957-1G>A
ENST00000647165.2:c.8714-1G>A MANE Select ENSP00000495481.1:n.8714-1G>A
ENST00000651214.1:n.860-1G>A
ENST00000205890.9:c.8714-1G>A ENSP00000205890.5:n.8714-1G>A
ENST00000418233.7:c.506-1G>A ENSP00000408800.3:n.506-1G>A
ENST00000445289.6:n.138-567G>A
ENST00000536811.5:n.627-1G>A
ENST00000615845.4:c.8714-1G>A ENSP00000481642.1:n.8714-1G>A
NM_016239.3:c.8714-1G>A NP_057323.3:n.8714-1G>A
XM_011523921.1:c.8708-1G>A XP_011522223.1:n.8708-1G>A
XM_017024714.2:c.8654-1G>A XP_016880203.1:n.8654-1G>A
XM_017024715.2:c.8717-1G>A XP_016880204.1:n.8717-1G>A
NM_016239.4:c.8714-1G>A MANE Select NP_057323.3:n.8714-1G>A
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