Canonical Allele Identifier: CA1742701457
Gene: SMO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213240G= , CM000669.2:g.129213240G= GRCh38
NC_000007.13:g.128853081G= , CM000669.1:g.128853081G= GRCh37
NC_000007.12:g.128640317G= NCBI36
NG_023340.1:g.29369G=
NG_023340.2:g.29369G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*789G= MANE Select ENSP00000249373.3:n.*789G=
ENST00000655644.1:c.*2908G= ENSP00000499377.1:n.*2908G=
ENST00000249373.7:c.*789G= ENSP00000249373.3:n.*789G=
NM_005631.4:c.*789G= NP_005622.1:n.*789G=
XM_011516522.1:c.*789G= XP_011514824.1:n.*789G=
XM_024446891.1:c.*789G= XP_024302659.1:n.*789G=
NM_005631.5:c.*789G= MANE Select NP_005622.1:n.*789G=