Canonical Allele Identifier: CA1742701097
Gene: SMO HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213069T= , CM000669.2:g.129213069T= GRCh38
NC_000007.13:g.128852910T= , CM000669.1:g.128852910T= GRCh37
NC_000007.12:g.128640146T= NCBI36
NG_023340.1:g.29198T=
NG_023340.2:g.29198T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*618T= MANE Select ENSP00000249373.3:n.*618T=
ENST00000655644.1:c.*2737T= ENSP00000499377.1:n.*2737T=
ENST00000249373.7:c.*618T= ENSP00000249373.3:n.*618T=
NM_005631.4:c.*618T= NP_005622.1:n.*618T=
XM_011516522.1:c.*618T= XP_011514824.1:n.*618T=
XM_024446891.1:c.*618T= XP_024302659.1:n.*618T=
NM_005631.5:c.*618T= MANE Select NP_005622.1:n.*618T=
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