Canonical Allele Identifier: CA398633848
Gene: MYO15A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18159306G>C , CM000679.2:g.18159306G>C GRCh38
NC_000017.10:g.18062620G>C , CM000679.1:g.18062620G>C GRCh37
NC_000017.9:g.18003345G>C NCBI36
NG_011634.1:g.55601G>C
NG_011634.2:g.55601G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642418.1:n.1526G>C
ENST00000643693.1:n.990G>C
ENST00000644795.1:c.980G>C ENSP00000495720.1:p.Ser327Thr
ENST00000646782.1:n.1922G>C
ENST00000647165.2:c.9188G>C MANE Select ENSP00000495481.1:p.Ser3063Thr
ENST00000651214.1:n.1693G>C
ENST00000205890.9:c.9188G>C ENSP00000205890.5:p.Ser3063Thr
ENST00000418233.7:c.980G>C ENSP00000408800.3:p.Ser327Thr
ENST00000433411.7:n.125G>C
ENST00000445289.6:n.316+1406G>C
ENST00000556535.5:c.50G>C ENSP00000451782.1:p.Ser17Thr
ENST00000557190.5:n.90G>C
ENST00000557655.5:c.50G>C ENSP00000451925.1:p.Ser17Thr
ENST00000578472.5:c.50G>C ENSP00000467989.1:p.Ser17Thr
ENST00000615845.4:c.9188G>C ENSP00000481642.1:p.Ser3063Thr
NM_016239.3:c.9188G>C NP_057323.3:p.Ser3063Thr
XM_011523921.1:c.9182G>C XP_011522223.1:p.Ser3061Thr
XM_017024714.2:c.9128G>C XP_016880203.1:p.Ser3043Thr
XM_017024715.2:c.9191G>C XP_016880204.1:p.Ser3064Thr
NM_016239.4:c.9188G>C MANE Select NP_057323.3:p.Ser3063Thr