Canonical Allele Identifier: CA10947427
Gene: MYOM3 HGNC NCBI

Linked Data

dbSNP Id: rs3934861
gnomAD v2: 1-24431956-G-A
gnomAD v3: 1-24105466-G-A
gnomAD v4: 1-24105466-G-A
MyVariant Identifiers: chr1:g.24431956G>A (hg19) chr1:g.24105466G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.24105466G>A , CM000663.2:g.24105466G>A GRCh38
NC_000001.10:g.24431956G>A , CM000663.1:g.24431956G>A GRCh37
NC_000001.9:g.24304543G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000374434.4:c.560+454C>T MANE Select ENSP00000363557.3:n.560+454C>T
ENST00000374434.3:c.560+454C>T ENSP00000363557.3:n.560+454C>T
ENST00000475306.1:n.765+454C>T
NM_152372.3:c.560+454C>T NP_689585.3:n.560+454C>T
NM_152372.4:c.560+454C>T MANE Select NP_689585.3:n.560+454C>T
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