Canonical Allele Identifier: CA8423917
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 504630
ClinVar RCV Id: RCV000616755 RCV001123866 RCV001731805 RCV002232567 RCV003935634
dbSNP Id: rs149813580
ExAC: 17:18039039 G / T
gnomAD v2: 17-18039039-G-T
gnomAD v3: 17-18135725-G-T
gnomAD v4: 17-18135725-G-T
MyVariant Identifiers: chr17:g.18039039G>T (hg19) chr17:g.18135725G>T (hg38)
ERepo: CA8423917/MONDO:0019497/005
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18135725G>T , CM000679.2:g.18135725G>T GRCh38
NC_000017.10:g.18039039G>T , CM000679.1:g.18039039G>T GRCh37
NC_000017.9:g.17979764G>T NCBI36
NG_011634.1:g.32020G>T
NG_011634.2:g.32020G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.4497G>T MANE Select ENSP00000495481.1:p.Glu1499Asp
ENST00000205890.9:c.4497G>T ENSP00000205890.5:p.Glu1499Asp
ENST00000615845.4:c.4497G>T ENSP00000481642.1:p.Glu1499Asp
NM_016239.3:c.4497G>T NP_057323.3:p.Glu1499Asp
XM_011523917.1:c.4491G>T XP_011522219.1:p.Glu1497Asp
XM_011523918.1:c.4491G>T XP_011522220.1:p.Glu1497Asp
XM_011523919.1:c.4491G>T XP_011522221.1:p.Glu1497Asp
XM_011523920.1:c.4491G>T XP_011522222.1:p.Glu1497Asp
XM_011523921.1:c.4491G>T XP_011522223.1:p.Glu1497Asp
XR_934037.1:n.5150G>T
XR_934038.1:n.5150G>T
XR_934039.1:n.5150G>T
XM_011523918.2:c.4491G>T XP_011522220.1:p.Glu1497Asp
XM_017024714.2:c.4491G>T XP_016880203.1:p.Glu1497Asp
XM_017024715.2:c.4500G>T XP_016880204.1:p.Glu1500Asp
XM_024450780.1:c.4491G>T XP_024306548.1:p.Glu1497Asp
XM_024450781.1:c.4491G>T XP_024306549.1:p.Glu1497Asp
XM_024450782.1:c.4491G>T XP_024306550.1:p.Glu1497Asp
XR_934039.2:n.5189G>T
NM_016239.4:c.4497G>T MANE Select NP_057323.3:p.Glu1499Asp
Search 100 bp 5'
Search 100 bp 3'