Canonical Allele Identifier: CA2576190311

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 3006736
• ClinVar RCV Id: RCV003861351
• gnomAD v4: 17-18143810-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18143810A>C , CM000679.2:g.18143810A>C	GRCh38
NC_000017.10:g.18047124A>C , CM000679.1:g.18047124A>C	GRCh37
NC_000017.9:g.17987849A>C	NCBI36
NG_011634.1:g.40105A>C
NG_011634.2:g.40105A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6046+14A>C MANE Select	ENSP00000495481.1:n.6046+14A>C
ENST00000205890.9:c.6046+14A>C	ENSP00000205890.5:n.6046+14A>C
ENST00000615845.4:c.6046+14A>C	ENSP00000481642.1:n.6046+14A>C
NM_016239.3:c.6046+14A>C	NP_057323.3:n.6046+14A>C
XM_011523917.1:c.5986+14A>C	XP_011522219.1:n.5986+14A>C
XM_011523918.1:c.5986+14A>C	XP_011522220.1:n.5986+14A>C
XM_011523919.1:c.5986+14A>C	XP_011522221.1:n.5986+14A>C
XM_011523921.1:c.6040+14A>C	XP_011522223.1:n.6040+14A>C
XR_934037.1:n.6645+14A>C
XR_934038.1:n.6645+14A>C
XM_011523918.2:c.5986+14A>C	XP_011522220.1:n.5986+14A>C
XM_017024714.2:c.5986+14A>C	XP_016880203.1:n.5986+14A>C
XM_017024715.2:c.6049+14A>C	XP_016880204.1:n.6049+14A>C
XM_024450780.1:c.5986+14A>C	XP_024306548.1:n.5986+14A>C
XM_024450781.1:c.5986+14A>C	XP_024306549.1:n.5986+14A>C
NM_016239.4:c.6046+14A>C MANE Select	NP_057323.3:n.6046+14A>C