Canonical Allele Identifier: CA1107087316
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs1793908948
gnomAD v3: 7-129213210-T-C
gnomAD v4: 7-129213210-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213210T>C , CM000669.2:g.129213210T>C GRCh38
NC_000007.13:g.128853051T>C , CM000669.1:g.128853051T>C GRCh37
NC_000007.12:g.128640287T>C NCBI36
NG_023340.1:g.29339T>C
NG_023340.2:g.29339T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*759T>C MANE Select ENSP00000249373.3:n.*759T>C
ENST00000655644.1:c.*2878T>C ENSP00000499377.1:n.*2878T>C
ENST00000249373.7:c.*759T>C ENSP00000249373.3:n.*759T>C
NM_005631.4:c.*759T>C NP_005622.1:n.*759T>C
XM_011516522.1:c.*759T>C XP_011514824.1:n.*759T>C
XM_024446891.1:c.*759T>C XP_024302659.1:n.*759T>C
NM_005631.5:c.*759T>C MANE Select NP_005622.1:n.*759T>C
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