Canonical Allele Identifier: CA16044424
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 375678
ClinVar RCV Id: RCV000417166
dbSNP Id: rs1057519606

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18159349T>C , CM000679.2:g.18159349T>C GRCh38
NC_000017.10:g.18062663T>C , CM000679.1:g.18062663T>C GRCh37
NC_000017.9:g.18003388T>C NCBI36
NG_011634.1:g.55644T>C
NG_011634.2:g.55644T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000642418.1:n.1567+2T>C
ENST00000643693.1:n.1031+2T>C
ENST00000644795.1:c.1021+2T>C ENSP00000495720.1:n.1021+2T>C
ENST00000646782.1:n.1963+2T>C
ENST00000647165.2:c.9229+2T>C MANE Select ENSP00000495481.1:n.9229+2T>C
ENST00000651214.1:n.1734+2T>C
ENST00000205890.9:c.9229+2T>C ENSP00000205890.5:n.9229+2T>C
ENST00000418233.7:c.1021+2T>C ENSP00000408800.3:n.1021+2T>C
ENST00000433411.7:n.168T>C
ENST00000445289.6:n.316+1449T>C
ENST00000556535.5:c.91+2T>C ENSP00000451782.1:n.91+2T>C
ENST00000557190.5:n.131+2T>C
ENST00000557655.5:c.91+2T>C ENSP00000451925.1:n.91+2T>C
ENST00000578472.5:c.91+2T>C ENSP00000467989.1:n.91+2T>C
ENST00000615845.4:c.9229+2T>C ENSP00000481642.1:n.9229+2T>C
NM_016239.3:c.9229+2T>C NP_057323.3:n.9229+2T>C
XM_011523921.1:c.9223+2T>C XP_011522223.1:n.9223+2T>C
XM_017024714.2:c.9169+2T>C XP_016880203.1:n.9169+2T>C
XM_017024715.2:c.9232+2T>C XP_016880204.1:n.9232+2T>C
NM_016239.4:c.9229+2T>C MANE Select NP_057323.3:n.9229+2T>C