Canonical Allele Identifier: CA13330528

Gene: MYO3A

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26195225A>G , CM000672.2:g.26195225A>G	GRCh38
NC_000010.10:g.26484154A>G , CM000672.1:g.26484154A>G	GRCh37
NC_000010.9:g.26524160A>G	NCBI36
NG_011635.1:g.266153A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642920.2:c.4545+1914A>G MANE Select	ENSP00000495965.1:n.4545+1914A>G
ENST00000647478.1:c.*1500+1914A>G	ENSP00000493932.1:n.*1500+1914A>G
ENST00000265944.9:c.4545+1914A>G	ENSP00000265944.4:n.4545+1914A>G
ENST00000543632.5:c.1777-16618A>G	ENSP00000445909.1:n.1777-16618A>G
NM_017433.4:c.4545+1914A>G	NP_059129.3:n.4545+1914A>G
XM_011519498.1:c.4545+1914A>G	XP_011517800.1:n.4545+1914A>G
XM_011519499.1:c.4545+1914A>G	XP_011517801.1:n.4545+1914A>G
XM_011519500.1:c.4545+1914A>G	XP_011517802.1:n.4545+1914A>G
XM_011519501.1:c.4545+1914A>G	XP_011517803.1:n.4545+1914A>G
XM_011519502.1:c.4545+1914A>G	XP_011517804.1:n.4545+1914A>G
XM_011519503.1:c.4545+1914A>G	XP_011517805.1:n.4545+1914A>G
XM_011519504.1:c.4439-6040A>G	XP_011517806.1:n.4439-6040A>G
XM_011519505.1:c.4294-6040A>G	XP_011517807.1:n.4294-6040A>G
XM_011519506.1:c.4545+1914A>G	XP_011517808.1:n.4545+1914A>G
XM_011519507.1:c.4182+1914A>G	XP_011517809.1:n.4182+1914A>G
XM_011519512.1:c.2673+1914A>G	XP_011517814.1:n.2673+1914A>G
XM_011519513.1:c.2214+1914A>G	XP_011517815.1:n.2214+1914A>G
XR_930492.1:n.4749+1914A>G
XR_930493.1:n.4643-6040A>G
XR_930494.1:n.4604+1914A>G
XM_011519498.2:c.4545+1914A>G	XP_011517800.1:n.4545+1914A>G
XM_011519500.2:c.4545+1914A>G	XP_011517802.1:n.4545+1914A>G
XM_011519506.2:c.4545+1914A>G	XP_011517808.1:n.4545+1914A>G
XM_011519513.2:c.2214+1914A>G	XP_011517815.1:n.2214+1914A>G
XR_001747111.1:n.3603-6040A>G
NM_017433.5:c.4545+1914A>G MANE Select	NP_059129.3:n.4545+1914A>G