Canonical Allele Identifier: CA1742701388
Gene: SMO HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213200C= , CM000669.2:g.129213200C= GRCh38
NC_000007.13:g.128853041C= , CM000669.1:g.128853041C= GRCh37
NC_000007.12:g.128640277C= NCBI36
NG_023340.1:g.29329C=
NG_023340.2:g.29329C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*749C= MANE Select ENSP00000249373.3:n.*749C=
ENST00000655644.1:c.*2868C= ENSP00000499377.1:n.*2868C=
ENST00000249373.7:c.*749C= ENSP00000249373.3:n.*749C=
NM_005631.4:c.*749C= NP_005622.1:n.*749C=
XM_011516522.1:c.*749C= XP_011514824.1:n.*749C=
XM_024446891.1:c.*749C= XP_024302659.1:n.*749C=
NM_005631.5:c.*749C= MANE Select NP_005622.1:n.*749C=
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