Canonical Allele Identifier: CA2144950948
Gene: SMOC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.69880631A>C , CM000676.2:g.69880631A>C GRCh38
NC_000014.8:g.70347348A>C , CM000676.1:g.70347348A>C GRCh37
NC_000014.7:g.69417101A>C NCBI36
NG_028217.1:g.6235A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361956.8:c.99+854A>C MANE Select ENSP00000355110.4:n.99+854A>C
ENST00000361956.7:c.99+854A>C ENSP00000355110.3:n.99+854A>C
ENST00000381280.4:c.99+854A>C ENSP00000370680.4:n.99+854A>C
ENST00000555917.1:n.404+16417A>C
NM_001034852.2:c.99+854A>C NP_001030024.1:n.99+854A>C
NM_022137.5:c.99+854A>C NP_071420.1:n.99+854A>C
XM_005267995.1:c.99+854A>C XP_005268052.1:n.99+854A>C
XM_005267996.1:c.99+854A>C XP_005268053.1:n.99+854A>C
NM_001034852.3:c.99+854A>C MANE Select NP_001030024.1:n.99+854A>C
NM_022137.6:c.99+854A>C NP_071420.1:n.99+854A>C
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