Canonical Allele Identifier: CA5445247

Gene: MYO3A

Linked Data

• ClinVar Variation Id: 299670
• ClinVar RCV Id: RCV001002598 ; RCV001546540
• dbSNP Id: rs373758358
• ExAC: 10:26459471 A / G
• gnomAD v2: 10-26459471-A-G
• gnomAD v3: 10-26170542-A-G
• gnomAD v4: 10-26170542-A-G
• MyVariant Identifiers: chr10:g.26459471A>G (hg19) ; chr10:g.26170542A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26170542A>G , CM000672.2:g.26170542A>G	GRCh38
NC_000010.10:g.26459471A>G , CM000672.1:g.26459471A>G	GRCh37
NC_000010.9:g.26499477A>G	NCBI36
NG_011635.1:g.241470A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642920.2:c.3398+3A>G MANE Select	ENSP00000495965.1:n.3398+3A>G
ENST00000647478.1:c.*1393+3A>G	ENSP00000493932.1:n.*1393+3A>G
ENST00000265944.9:c.3398+3A>G	ENSP00000265944.4:n.3398+3A>G
ENST00000543632.5:c.1777-41301A>G	ENSP00000445909.1:n.1777-41301A>G
NM_017433.4:c.3398+3A>G	NP_059129.3:n.3398+3A>G
XM_011519498.1:c.3398+3A>G	XP_011517800.1:n.3398+3A>G
XM_011519499.1:c.3398+3A>G	XP_011517801.1:n.3398+3A>G
XM_011519500.1:c.3398+3A>G	XP_011517802.1:n.3398+3A>G
XM_011519501.1:c.3398+3A>G	XP_011517803.1:n.3398+3A>G
XM_011519502.1:c.3398+3A>G	XP_011517804.1:n.3398+3A>G
XM_011519503.1:c.3398+3A>G	XP_011517805.1:n.3398+3A>G
XM_011519504.1:c.3398+3A>G	XP_011517806.1:n.3398+3A>G
XM_011519505.1:c.3398+3A>G	XP_011517807.1:n.3398+3A>G
XM_011519506.1:c.3398+3A>G	XP_011517808.1:n.3398+3A>G
XM_011519507.1:c.3035+3A>G	XP_011517809.1:n.3035+3A>G
XM_011519508.1:c.3398+3A>G	XP_011517810.1:n.3398+3A>G
XM_011519509.1:c.3398+3A>G	XP_011517811.1:n.3398+3A>G
XM_011519510.1:c.3398+3A>G	XP_011517812.1:n.3398+3A>G
XM_011519512.1:c.1526+3A>G	XP_011517814.1:n.1526+3A>G
XM_011519513.1:c.1067+3A>G	XP_011517815.1:n.1067+3A>G
XR_930492.1:n.3602+3A>G
XR_930493.1:n.3602+3A>G
XR_930494.1:n.3602+3A>G
XM_011519498.2:c.3398+3A>G	XP_011517800.1:n.3398+3A>G
XM_011519500.2:c.3398+3A>G	XP_011517802.1:n.3398+3A>G
XM_011519506.2:c.3398+3A>G	XP_011517808.1:n.3398+3A>G
XM_011519508.2:c.3398+3A>G	XP_011517810.1:n.3398+3A>G
XM_011519510.2:c.3398+3A>G	XP_011517812.1:n.3398+3A>G
XM_011519513.2:c.1067+3A>G	XP_011517815.1:n.1067+3A>G
XR_001747111.1:n.3602+3A>G
NM_017433.5:c.3398+3A>G MANE Select	NP_059129.3:n.3398+3A>G