Canonical Allele Identifier: CA177233
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 164537
ClinVar RCV Id: RCV000151399 RCV003162615
dbSNP Id: rs727503311
gnomAD v3: 17-18145890-G-A
gnomAD v4: 17-18145890-G-A
MyVariant Identifiers: chr17:g.18049204G>A (hg19) chr17:g.18145890G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145890G>A , CM000679.2:g.18145890G>A GRCh38
NC_000017.10:g.18049204G>A , CM000679.1:g.18049204G>A GRCh37
NC_000017.9:g.17989929G>A NCBI36
NG_011634.1:g.42185G>A
NG_011634.2:g.42185G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6292G>A MANE Select ENSP00000495481.1:p.Asp2098Asn
ENST00000205890.9:c.6292G>A ENSP00000205890.5:p.Asp2098Asn
ENST00000615845.4:c.6292G>A ENSP00000481642.1:p.Asp2098Asn
NM_016239.3:c.6292G>A NP_057323.3:p.Asp2098Asn
XM_011523917.1:c.6232G>A XP_011522219.1:p.Asp2078Asn
XM_011523918.1:c.6232G>A XP_011522220.1:p.Asp2078Asn
XM_011523921.1:c.6286G>A XP_011522223.1:p.Asp2096Asn
XR_934037.1:n.6891G>A
XR_934038.1:n.6891G>A
XM_011523918.2:c.6232G>A XP_011522220.1:p.Asp2078Asn
XM_017024714.2:c.6232G>A XP_016880203.1:p.Asp2078Asn
XM_017024715.2:c.6295G>A XP_016880204.1:p.Asp2099Asn
XM_024450781.1:c.6213+1298G>A XP_024306549.1:n.6213+1298G>A
NM_016239.4:c.6292G>A MANE Select NP_057323.3:p.Asp2098Asn
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