Canonical Allele Identifier: CA10628421

Gene: MYO3A

Linked Data

• ClinVar Variation Id: 299690
• ClinVar RCV Id: RCV000384113 ; RCV003221894
• dbSNP Id: rs72787376
• gnomAD v2: 10-26501385-G-A
• gnomAD v3: 10-26212456-G-A
• gnomAD v4: 10-26212456-G-A
• MyVariant Identifiers: chr10:g.26501385G>A (hg19) ; chr10:g.26212456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26212456G>A , CM000672.2:g.26212456G>A	GRCh38
NC_000010.10:g.26501385G>A , CM000672.1:g.26501385G>A	GRCh37
NC_000010.9:g.26541391G>A	NCBI36
NG_011635.1:g.283384G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642920.2:c.*493G>A MANE Select	ENSP00000495965.1:n.*493G>A
ENST00000265944.9:c.*493G>A	ENSP00000265944.4:n.*493G>A
NM_017433.4:c.*493G>A	NP_059129.3:n.*493G>A
XM_011519498.1:c.*493G>A	XP_011517800.1:n.*493G>A
XM_011519499.1:c.*493G>A	XP_011517801.1:n.*493G>A
XM_011519500.1:c.*493G>A	XP_011517802.1:n.*493G>A
XM_011519501.1:c.*493G>A	XP_011517803.1:n.*493G>A
XM_011519504.1:c.*395G>A	XP_011517806.1:n.*395G>A
XM_011519505.1:c.*493G>A	XP_011517807.1:n.*493G>A
XM_011519507.1:c.*493G>A	XP_011517809.1:n.*493G>A
XM_011519512.1:c.*493G>A	XP_011517814.1:n.*493G>A
XM_011519513.1:c.*493G>A	XP_011517815.1:n.*493G>A
XR_930493.1:n.5441G>A
XM_011519498.2:c.*493G>A	XP_011517800.1:n.*493G>A
XM_011519500.2:c.*493G>A	XP_011517802.1:n.*493G>A
XM_011519513.2:c.*493G>A	XP_011517815.1:n.*493G>A
XR_001747111.1:n.4401G>A
NM_017433.5:c.*493G>A MANE Select	NP_059129.3:n.*493G>A