Canonical Allele Identifier: CA275492
Gene: MYO15A HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.18143580G>A
GRCh37 chr17:g.18046894G>A
gnomAD v2:
17:18046894 G / A
gnomAD v3:
17:18143580 G / A
gnomAD v4:
chr17-18143580-G-A
Joint Max Group AF 0.013353 (SAS)
Genomes Max Group AF 0.01235637 (SAS)
Exomes Max Group AF 0.01326678 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18143580G>A , CM000679.2:g.18143580G>A GRCh38
NC_000017.10:g.18046894G>A , CM000679.1:g.18046894G>A GRCh37
NC_000017.9:g.17987619G>A NCBI36
NG_011634.1:g.39875G>A
NG_011634.2:g.39875G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.5925G>A MANE Select ENSP00000495481.1:p.Trp1975Ter
ENST00000205890.9:c.5925G>A ENSP00000205890.5:p.Trp1975Ter
ENST00000615845.4:c.5925G>A ENSP00000481642.1:p.Trp1975Ter
NM_016239.3:c.5925G>A NP_057323.3:p.Trp1975Ter
XM_011523917.1:c.5905-135G>A XP_011522219.1:n.5905-135G>A
XM_011523918.1:c.5905-135G>A XP_011522220.1:n.5905-135G>A
XM_011523919.1:c.5905-135G>A XP_011522221.1:n.5905-135G>A
XM_011523920.1:c.*32G>A XP_011522222.1:n.*32G>A
XM_011523921.1:c.5919G>A XP_011522223.1:p.Trp1973Ter
XR_934037.1:n.6564-135G>A
XR_934038.1:n.6564-135G>A
XR_934039.1:n.6817G>A
XM_011523918.2:c.5905-135G>A XP_011522220.1:n.5905-135G>A
XM_017024714.2:c.5905-135G>A XP_016880203.1:n.5905-135G>A
XM_017024715.2:c.5928G>A XP_016880204.1:p.Trp1976Ter
XM_024450780.1:c.5905-135G>A XP_024306548.1:n.5905-135G>A
XM_024450781.1:c.5905-135G>A XP_024306549.1:n.5905-135G>A
XM_024450782.1:c.*32G>A XP_024306550.1:n.*32G>A
XR_934039.2:n.6856G>A
NM_016239.4:c.5925G>A MANE Select NP_057323.3:p.Trp1975Ter
Search 100 bp 5'
Search 100 bp 3'