Canonical Allele Identifier: CA8424554

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 3019085
• ClinVar RCV Id: RCV003871716
• dbSNP Id: rs748464552
• ExAC: 17:18049177 G / A
• gnomAD v2: 17-18049177-G-A
• gnomAD v3: 17-18145863-G-A
• gnomAD v4: 17-18145863-G-A
• MyVariant Identifiers: chr17:g.18049177G>A (hg19) ; chr17:g.18145863G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18145863G>A , CM000679.2:g.18145863G>A	GRCh38
NC_000017.10:g.18049177G>A , CM000679.1:g.18049177G>A	GRCh37
NC_000017.9:g.17989902G>A	NCBI36
NG_011634.1:g.42158G>A
NG_011634.2:g.42158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6274-9G>A MANE Select	ENSP00000495481.1:n.6274-9G>A
ENST00000205890.9:c.6274-9G>A	ENSP00000205890.5:n.6274-9G>A
ENST00000615845.4:c.6274-9G>A	ENSP00000481642.1:n.6274-9G>A
NM_016239.3:c.6274-9G>A	NP_057323.3:n.6274-9G>A
XM_011523917.1:c.6214-9G>A	XP_011522219.1:n.6214-9G>A
XM_011523918.1:c.6214-9G>A	XP_011522220.1:n.6214-9G>A
XM_011523921.1:c.6268-9G>A	XP_011522223.1:n.6268-9G>A
XR_934037.1:n.6873-9G>A
XR_934038.1:n.6873-9G>A
XM_011523918.2:c.6214-9G>A	XP_011522220.1:n.6214-9G>A
XM_017024714.2:c.6214-9G>A	XP_016880203.1:n.6214-9G>A
XM_017024715.2:c.6277-9G>A	XP_016880204.1:n.6277-9G>A
XM_024450781.1:c.6213+1271G>A	XP_024306549.1:n.6213+1271G>A
NM_016239.4:c.6274-9G>A MANE Select	NP_057323.3:n.6274-9G>A