Canonical Allele Identifier: CA398607099
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 1301944
ClinVar RCV Id: RCV002225012 RCV003560839
dbSNP Id: rs2142355107
gnomAD v4: 17-18146040-T-A
MyVariant Identifiers: chr17:g.18049354T>A (hg19) chr17:g.18146040T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146040T>A , CM000679.2:g.18146040T>A GRCh38
NC_000017.10:g.18049354T>A , CM000679.1:g.18049354T>A GRCh37
NC_000017.9:g.17990079T>A NCBI36
NG_011634.1:g.42335T>A
NG_011634.2:g.42335T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6442T>A MANE Select ENSP00000495481.1:p.Trp2148Arg
ENST00000205890.9:c.6442T>A ENSP00000205890.5:p.Trp2148Arg
ENST00000578999.1:n.27T>A
ENST00000615845.4:c.6442T>A ENSP00000481642.1:p.Trp2148Arg
NM_016239.3:c.6442T>A NP_057323.3:p.Trp2148Arg
XM_011523917.1:c.6382T>A XP_011522219.1:p.Trp2128Arg
XM_011523918.1:c.6342+40T>A XP_011522220.1:n.6342+40T>A
XM_011523921.1:c.6436T>A XP_011522223.1:p.Trp2146Arg
XR_934037.1:n.7041T>A
XR_934038.1:n.7041T>A
XM_011523918.2:c.6342+40T>A XP_011522220.1:n.6342+40T>A
XM_017024714.2:c.6382T>A XP_016880203.1:p.Trp2128Arg
XM_017024715.2:c.6445T>A XP_016880204.1:p.Trp2149Arg
XM_024450781.1:c.6213+1448T>A XP_024306549.1:n.6213+1448T>A
NM_016239.4:c.6442T>A MANE Select NP_057323.3:p.Trp2148Arg
Search 100 bp 5'
Search 100 bp 3'