Canonical Allele Identifier: CA5445252

Gene: MYO3A

Linked Data

• dbSNP Id: rs562481124
• ExAC: 10:26459494 G / A
• gnomAD v2: 10-26459494-G-A
• gnomAD v3: 10-26170565-G-A
• gnomAD v4: 10-26170565-G-A
• MyVariant Identifiers: chr10:g.26459494G>A (hg19) ; chr10:g.26170565G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26170565G>A , CM000672.2:g.26170565G>A	GRCh38
NC_000010.10:g.26459494G>A , CM000672.1:g.26459494G>A	GRCh37
NC_000010.9:g.26499500G>A	NCBI36
NG_011635.1:g.241493G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642920.2:c.3398+26G>A MANE Select	ENSP00000495965.1:n.3398+26G>A
ENST00000647478.1:c.*1393+26G>A	ENSP00000493932.1:n.*1393+26G>A
ENST00000265944.9:c.3398+26G>A	ENSP00000265944.4:n.3398+26G>A
ENST00000543632.5:c.1777-41278G>A	ENSP00000445909.1:n.1777-41278G>A
NM_017433.4:c.3398+26G>A	NP_059129.3:n.3398+26G>A
XM_011519498.1:c.3398+26G>A	XP_011517800.1:n.3398+26G>A
XM_011519499.1:c.3398+26G>A	XP_011517801.1:n.3398+26G>A
XM_011519500.1:c.3398+26G>A	XP_011517802.1:n.3398+26G>A
XM_011519501.1:c.3398+26G>A	XP_011517803.1:n.3398+26G>A
XM_011519502.1:c.3398+26G>A	XP_011517804.1:n.3398+26G>A
XM_011519503.1:c.3398+26G>A	XP_011517805.1:n.3398+26G>A
XM_011519504.1:c.3398+26G>A	XP_011517806.1:n.3398+26G>A
XM_011519505.1:c.3398+26G>A	XP_011517807.1:n.3398+26G>A
XM_011519506.1:c.3398+26G>A	XP_011517808.1:n.3398+26G>A
XM_011519507.1:c.3035+26G>A	XP_011517809.1:n.3035+26G>A
XM_011519508.1:c.3398+26G>A	XP_011517810.1:n.3398+26G>A
XM_011519509.1:c.3398+26G>A	XP_011517811.1:n.3398+26G>A
XM_011519510.1:c.3398+26G>A	XP_011517812.1:n.3398+26G>A
XM_011519512.1:c.1526+26G>A	XP_011517814.1:n.1526+26G>A
XM_011519513.1:c.1067+26G>A	XP_011517815.1:n.1067+26G>A
XR_930492.1:n.3602+26G>A
XR_930493.1:n.3602+26G>A
XR_930494.1:n.3602+26G>A
XM_011519498.2:c.3398+26G>A	XP_011517800.1:n.3398+26G>A
XM_011519500.2:c.3398+26G>A	XP_011517802.1:n.3398+26G>A
XM_011519506.2:c.3398+26G>A	XP_011517808.1:n.3398+26G>A
XM_011519508.2:c.3398+26G>A	XP_011517810.1:n.3398+26G>A
XM_011519510.2:c.3398+26G>A	XP_011517812.1:n.3398+26G>A
XM_011519513.2:c.1067+26G>A	XP_011517815.1:n.1067+26G>A
XR_001747111.1:n.3602+26G>A
NM_017433.5:c.3398+26G>A MANE Select	NP_059129.3:n.3398+26G>A