Canonical Allele Identifier: CA8423128
Gene: MYO15A HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Benign
Condition nonsyndromic genetic deafness
VCEP Hearing Loss VCEP
MyVariant.info:
GRCh38 chr17:g.18120382G>A
GRCh37 chr17:g.18023696G>A
Revel Score:
ENST00000205890 0.017
gnomAD v2:
17:18023696 G / A
gnomAD v3:
17:18120382 G / A
gnomAD v4:
chr17-18120382-G-A
Joint Max Group AF 0.00283956 (AFR)
Genomes Max Group AF 0.00277757 (AFR)
Exomes Max Group AF 0.00262347 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18120382G>A , CM000679.2:g.18120382G>A GRCh38
NC_000017.10:g.18023696G>A , CM000679.1:g.18023696G>A GRCh37
NC_000017.9:g.17964421G>A NCBI36
NG_011634.1:g.16677G>A
NG_011634.2:g.16677G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.1582G>A MANE Select ENSP00000495481.1:p.Gly528Ser
ENST00000205890.9:c.1582G>A ENSP00000205890.5:p.Gly528Ser
ENST00000583079.1:n.1215G>A
ENST00000615845.4:c.1582G>A ENSP00000481642.1:p.Gly528Ser
NM_016239.3:c.1582G>A NP_057323.3:p.Gly528Ser
XM_011523917.1:c.1582G>A XP_011522219.1:p.Gly528Ser
XM_011523918.1:c.1582G>A XP_011522220.1:p.Gly528Ser
XM_011523919.1:c.1582G>A XP_011522221.1:p.Gly528Ser
XM_011523920.1:c.1582G>A XP_011522222.1:p.Gly528Ser
XM_011523921.1:c.1582G>A XP_011522223.1:p.Gly528Ser
XR_934037.1:n.2241G>A
XR_934038.1:n.2241G>A
XR_934039.1:n.2241G>A
XM_011523918.2:c.1582G>A XP_011522220.1:p.Gly528Ser
XM_017024714.2:c.1582G>A XP_016880203.1:p.Gly528Ser
XM_017024715.2:c.1582G>A XP_016880204.1:p.Gly528Ser
XM_024450780.1:c.1582G>A XP_024306548.1:p.Gly528Ser
XM_024450781.1:c.1582G>A XP_024306549.1:p.Gly528Ser
XM_024450782.1:c.1582G>A XP_024306550.1:p.Gly528Ser
XR_934039.2:n.2280G>A
NM_016239.4:c.1582G>A MANE Select NP_057323.3:p.Gly528Ser
Search 100 bp 5'
Search 100 bp 3'