Canonical Allele Identifier: CA2843531604
Gene: MYOC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652634C>A , CM000663.2:g.171652634C>A GRCh38
NC_000001.10:g.171621774C>A , CM000663.1:g.171621774C>A GRCh37
NC_000001.9:g.169888397C>A NCBI36
NG_008859.1:g.5000G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.-23G>T MANE Select ENSP00000037502.5:n.-23G>T
ENST00000037502.10:c.-23G>T ENSP00000037502.5:n.-23G>T
NM_000261.2:c.-23G>T MANE Select NP_000252.1:n.-23G>T
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