Canonical Allele Identifier: CA2684857276
Gene: SMO HGNC NCBI

Linked Data

gnomAD v4: 7-129213194-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213194T>G , CM000669.2:g.129213194T>G GRCh38
NC_000007.13:g.128853035T>G , CM000669.1:g.128853035T>G GRCh37
NC_000007.12:g.128640271T>G NCBI36
NG_023340.1:g.29323T>G
NG_023340.2:g.29323T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*743T>G MANE Select ENSP00000249373.3:n.*743T>G
ENST00000655644.1:c.*2862T>G ENSP00000499377.1:n.*2862T>G
ENST00000249373.7:c.*743T>G ENSP00000249373.3:n.*743T>G
NM_005631.4:c.*743T>G NP_005622.1:n.*743T>G
XM_011516522.1:c.*743T>G XP_011514824.1:n.*743T>G
XM_024446891.1:c.*743T>G XP_024302659.1:n.*743T>G
NM_005631.5:c.*743T>G MANE Select NP_005622.1:n.*743T>G
Search 100 bp 5'
Search 100 bp 3'