Canonical Allele Identifier: CA1742701211
Gene: SMO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213115C= , CM000669.2:g.129213115C= GRCh38
NC_000007.13:g.128852956C= , CM000669.1:g.128852956C= GRCh37
NC_000007.12:g.128640192C= NCBI36
NG_023340.1:g.29244C=
NG_023340.2:g.29244C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*664C= MANE Select ENSP00000249373.3:n.*664C=
ENST00000655644.1:c.*2783C= ENSP00000499377.1:n.*2783C=
ENST00000249373.7:c.*664C= ENSP00000249373.3:n.*664C=
NM_005631.4:c.*664C= NP_005622.1:n.*664C=
XM_011516522.1:c.*664C= XP_011514824.1:n.*664C=
XM_024446891.1:c.*664C= XP_024302659.1:n.*664C=
NM_005631.5:c.*664C= MANE Select NP_005622.1:n.*664C=