Canonical Allele Identifier: CA5445251

Gene: MYO3A

Linked Data

• ClinVar Variation Id: 1202817
• ClinVar RCV Id: RCV001568642
• dbSNP Id: rs201812562
• ExAC: 10:26459493 C / T
• gnomAD v2: 10-26459493-C-T
• gnomAD v3: 10-26170564-C-T
• gnomAD v4: 10-26170564-C-T
• MyVariant Identifiers: chr10:g.26459493C>T (hg19) ; chr10:g.26170564C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26170564C>T , CM000672.2:g.26170564C>T	GRCh38
NC_000010.10:g.26459493C>T , CM000672.1:g.26459493C>T	GRCh37
NC_000010.9:g.26499499C>T	NCBI36
NG_011635.1:g.241492C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642920.2:c.3398+25C>T MANE Select	ENSP00000495965.1:n.3398+25C>T
ENST00000647478.1:c.*1393+25C>T	ENSP00000493932.1:n.*1393+25C>T
ENST00000265944.9:c.3398+25C>T	ENSP00000265944.4:n.3398+25C>T
ENST00000543632.5:c.1777-41279C>T	ENSP00000445909.1:n.1777-41279C>T
NM_017433.4:c.3398+25C>T	NP_059129.3:n.3398+25C>T
XM_011519498.1:c.3398+25C>T	XP_011517800.1:n.3398+25C>T
XM_011519499.1:c.3398+25C>T	XP_011517801.1:n.3398+25C>T
XM_011519500.1:c.3398+25C>T	XP_011517802.1:n.3398+25C>T
XM_011519501.1:c.3398+25C>T	XP_011517803.1:n.3398+25C>T
XM_011519502.1:c.3398+25C>T	XP_011517804.1:n.3398+25C>T
XM_011519503.1:c.3398+25C>T	XP_011517805.1:n.3398+25C>T
XM_011519504.1:c.3398+25C>T	XP_011517806.1:n.3398+25C>T
XM_011519505.1:c.3398+25C>T	XP_011517807.1:n.3398+25C>T
XM_011519506.1:c.3398+25C>T	XP_011517808.1:n.3398+25C>T
XM_011519507.1:c.3035+25C>T	XP_011517809.1:n.3035+25C>T
XM_011519508.1:c.3398+25C>T	XP_011517810.1:n.3398+25C>T
XM_011519509.1:c.3398+25C>T	XP_011517811.1:n.3398+25C>T
XM_011519510.1:c.3398+25C>T	XP_011517812.1:n.3398+25C>T
XM_011519512.1:c.1526+25C>T	XP_011517814.1:n.1526+25C>T
XM_011519513.1:c.1067+25C>T	XP_011517815.1:n.1067+25C>T
XR_930492.1:n.3602+25C>T
XR_930493.1:n.3602+25C>T
XR_930494.1:n.3602+25C>T
XM_011519498.2:c.3398+25C>T	XP_011517800.1:n.3398+25C>T
XM_011519500.2:c.3398+25C>T	XP_011517802.1:n.3398+25C>T
XM_011519506.2:c.3398+25C>T	XP_011517808.1:n.3398+25C>T
XM_011519508.2:c.3398+25C>T	XP_011517810.1:n.3398+25C>T
XM_011519510.2:c.3398+25C>T	XP_011517812.1:n.3398+25C>T
XM_011519513.2:c.1067+25C>T	XP_011517815.1:n.1067+25C>T
XR_001747111.1:n.3602+25C>T
NM_017433.5:c.3398+25C>T MANE Select	NP_059129.3:n.3398+25C>T