Canonical Allele Identifier: CA10576787
Gene: MYO3A HGNC NCBI

Linked Data

ClinVar Variation Id: 228277
ClinVar RCV Id: RCV000221092
dbSNP Id: rs876657652
MyVariant Identifiers: chr10:g.26482241G>C (hg19) chr10:g.26193312G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.26193312G>C , CM000672.2:g.26193312G>C GRCh38
NC_000010.10:g.26482241G>C , CM000672.1:g.26482241G>C GRCh37
NC_000010.9:g.26522247G>C NCBI36
NG_011635.1:g.264240G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000642920.2:c.4545+1G>C MANE Select ENSP00000495965.1:n.4545+1G>C
ENST00000647478.1:c.*1500+1G>C ENSP00000493932.1:n.*1500+1G>C
ENST00000265944.9:c.4545+1G>C ENSP00000265944.4:n.4545+1G>C
ENST00000543632.5:c.1777-18531G>C ENSP00000445909.1:n.1777-18531G>C
NM_017433.4:c.4545+1G>C NP_059129.3:n.4545+1G>C
XM_011519498.1:c.4545+1G>C XP_011517800.1:n.4545+1G>C
XM_011519499.1:c.4545+1G>C XP_011517801.1:n.4545+1G>C
XM_011519500.1:c.4545+1G>C XP_011517802.1:n.4545+1G>C
XM_011519501.1:c.4545+1G>C XP_011517803.1:n.4545+1G>C
XM_011519502.1:c.4545+1G>C XP_011517804.1:n.4545+1G>C
XM_011519503.1:c.4545+1G>C XP_011517805.1:n.4545+1G>C
XM_011519504.1:c.4439-7953G>C XP_011517806.1:n.4439-7953G>C
XM_011519505.1:c.4294-7953G>C XP_011517807.1:n.4294-7953G>C
XM_011519506.1:c.4545+1G>C XP_011517808.1:n.4545+1G>C
XM_011519507.1:c.4182+1G>C XP_011517809.1:n.4182+1G>C
XM_011519512.1:c.2673+1G>C XP_011517814.1:n.2673+1G>C
XM_011519513.1:c.2214+1G>C XP_011517815.1:n.2214+1G>C
XR_930492.1:n.4749+1G>C
XR_930493.1:n.4643-7953G>C
XR_930494.1:n.4604+1G>C
XR_930759.1:n.521+220C>G
XM_011519498.2:c.4545+1G>C XP_011517800.1:n.4545+1G>C
XM_011519500.2:c.4545+1G>C XP_011517802.1:n.4545+1G>C
XM_011519506.2:c.4545+1G>C XP_011517808.1:n.4545+1G>C
XM_011519513.2:c.2214+1G>C XP_011517815.1:n.2214+1G>C
XR_001747111.1:n.3603-7953G>C
NM_017433.5:c.4545+1G>C MANE Select NP_059129.3:n.4545+1G>C
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