Canonical Allele Identifier: CA2684857347
Gene: SMO HGNC NCBI

Linked Data

gnomAD v4: 7-129213245-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213245A>G , CM000669.2:g.129213245A>G GRCh38
NC_000007.13:g.128853086A>G , CM000669.1:g.128853086A>G GRCh37
NC_000007.12:g.128640322A>G NCBI36
NG_023340.1:g.29374A>G
NG_023340.2:g.29374A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*794A>G MANE Select ENSP00000249373.3:n.*794A>G
ENST00000655644.1:c.*2913A>G ENSP00000499377.1:n.*2913A>G
ENST00000249373.7:c.*794A>G ENSP00000249373.3:n.*794A>G
NM_005631.4:c.*794A>G NP_005622.1:n.*794A>G
XM_011516522.1:c.*794A>G XP_011514824.1:n.*794A>G
XM_024446891.1:c.*794A>G XP_024302659.1:n.*794A>G
NM_005631.5:c.*794A>G MANE Select NP_005622.1:n.*794A>G
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