Canonical Allele Identifier: CA1009116748
Gene: MYOC HGNC NCBI

Linked Data

dbSNP Id: rs1653360473
gnomAD v3: 1-171651828-G-C
gnomAD v4: 1-171651828-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171651828G>C , CM000663.2:g.171651828G>C GRCh38
NC_000001.10:g.171620968G>C , CM000663.1:g.171620968G>C GRCh37
NC_000001.9:g.169887591G>C NCBI36
NG_008859.1:g.5806C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.604+180C>G MANE Select ENSP00000037502.5:n.604+180C>G
ENST00000638471.1:c.130+654C>G ENSP00000491206.1:n.130+654C>G
ENST00000037502.10:c.604+180C>G ENSP00000037502.5:n.604+180C>G
ENST00000614688.1:c.604+180C>G ENSP00000478680.1:n.604+180C>G
NM_000261.1:c.604+180C>G NP_000252.1:n.604+180C>G
NM_000261.2:c.604+180C>G MANE Select NP_000252.1:n.604+180C>G
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