Canonical Allele Identifier: CA8424580
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 2798303
ClinVar RCV Id: RCV003675702
dbSNP Id: rs746752431
ExAC: 17:18049281 G / A
gnomAD v2: 17-18049281-G-A
gnomAD v4: 17-18145967-G-A
MyVariant Identifiers: chr17:g.18049281G>A (hg19) chr17:g.18145967G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145967G>A , CM000679.2:g.18145967G>A GRCh38
NC_000017.10:g.18049281G>A , CM000679.1:g.18049281G>A GRCh37
NC_000017.9:g.17990006G>A NCBI36
NG_011634.1:g.42262G>A
NG_011634.2:g.42262G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6369G>A MANE Select ENSP00000495481.1:p.Leu2123=
ENST00000205890.9:c.6369G>A ENSP00000205890.5:p.Leu2123=
ENST00000615845.4:c.6369G>A ENSP00000481642.1:p.Leu2123=
NM_016239.3:c.6369G>A NP_057323.3:p.Leu2123=
XM_011523917.1:c.6309G>A XP_011522219.1:p.Leu2103=
XM_011523918.1:c.6309G>A XP_011522220.1:p.Leu2103=
XM_011523921.1:c.6363G>A XP_011522223.1:p.Leu2121=
XR_934037.1:n.6968G>A
XR_934038.1:n.6968G>A
XM_011523918.2:c.6309G>A XP_011522220.1:p.Leu2103=
XM_017024714.2:c.6309G>A XP_016880203.1:p.Leu2103=
XM_017024715.2:c.6372G>A XP_016880204.1:p.Leu2124=
XM_024450781.1:c.6213+1375G>A XP_024306549.1:n.6213+1375G>A
NM_016239.4:c.6369G>A MANE Select NP_057323.3:p.Leu2123=
Search 100 bp 5'
Search 100 bp 3'