Canonical Allele Identifier: CA577743469
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs1320225551
gnomAD v2: 7-128853100-A-G
gnomAD v3: 7-129213259-A-G
gnomAD v4: 7-129213259-A-G
COSMIC: COSN6350853
MyVariant Identifiers: chr7:g.128853100A>G (hg19) chr7:g.129213259A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213259A>G , CM000669.2:g.129213259A>G GRCh38
NC_000007.13:g.128853100A>G , CM000669.1:g.128853100A>G GRCh37
NC_000007.12:g.128640336A>G NCBI36
NG_023340.1:g.29388A>G
NG_023340.2:g.29388A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*808A>G MANE Select ENSP00000249373.3:n.*808A>G
ENST00000655644.1:c.*2927A>G ENSP00000499377.1:n.*2927A>G
ENST00000249373.7:c.*808A>G ENSP00000249373.3:n.*808A>G
NM_005631.4:c.*808A>G NP_005622.1:n.*808A>G
XM_011516522.1:c.*808A>G XP_011514824.1:n.*808A>G
XM_024446891.1:c.*808A>G XP_024302659.1:n.*808A>G
NM_005631.5:c.*808A>G MANE Select NP_005622.1:n.*808A>G
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