Canonical Allele Identifier: CA1742701589
Gene: SMO HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213298C= , CM000669.2:g.129213298C= GRCh38
NC_000007.13:g.128853139C= , CM000669.1:g.128853139C= GRCh37
NC_000007.12:g.128640375C= NCBI36
NG_023340.1:g.29427C=
NG_023340.2:g.29427C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*847C= MANE Select ENSP00000249373.3:n.*847C=
ENST00000655644.1:c.*2966C= ENSP00000499377.1:n.*2966C=
ENST00000249373.7:c.*847C= ENSP00000249373.3:n.*847C=
NM_005631.4:c.*847C= NP_005622.1:n.*847C=
XM_011516522.1:c.*847C= XP_011514824.1:n.*847C=
XM_024446891.1:c.*847C= XP_024302659.1:n.*847C=
NM_005631.5:c.*847C= MANE Select NP_005622.1:n.*847C=
Search 100 bp 5'
Search 100 bp 3'