Canonical Allele Identifier: CA12572601
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs3824
gnomAD v2: 7-128852853-C-G
gnomAD v3: 7-129213012-C-G
gnomAD v4: 7-129213012-C-G
MyVariant Identifiers: chr7:g.128852853C>G (hg19) chr7:g.129213012C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213012C>G , CM000669.2:g.129213012C>G GRCh38
NC_000007.13:g.128852853C>G , CM000669.1:g.128852853C>G GRCh37
NC_000007.12:g.128640089C>G NCBI36
NG_023340.1:g.29141C>G
NG_023340.2:g.29141C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000249373.8:c.*561C>G MANE Select ENSP00000249373.3:n.*561C>G
ENST00000655644.1:c.*2680C>G ENSP00000499377.1:n.*2680C>G
ENST00000249373.7:c.*561C>G ENSP00000249373.3:n.*561C>G
NM_005631.4:c.*561C>G NP_005622.1:n.*561C>G
XM_011516522.1:c.*561C>G XP_011514824.1:n.*561C>G
XM_024446891.1:c.*561C>G XP_024302659.1:n.*561C>G
NM_005631.5:c.*561C>G MANE Select NP_005622.1:n.*561C>G
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