Canonical Allele Identifier: CA1107087318
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs1793909552
gnomAD v3: 7-129213243-A-T
gnomAD v4: 7-129213243-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213243A>T , CM000669.2:g.129213243A>T GRCh38
NC_000007.13:g.128853084A>T , CM000669.1:g.128853084A>T GRCh37
NC_000007.12:g.128640320A>T NCBI36
NG_023340.1:g.29372A>T
NG_023340.2:g.29372A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*792A>T MANE Select ENSP00000249373.3:n.*792A>T
ENST00000655644.1:c.*2911A>T ENSP00000499377.1:n.*2911A>T
ENST00000249373.7:c.*792A>T ENSP00000249373.3:n.*792A>T
NM_005631.4:c.*792A>T NP_005622.1:n.*792A>T
XM_011516522.1:c.*792A>T XP_011514824.1:n.*792A>T
XM_024446891.1:c.*792A>T XP_024302659.1:n.*792A>T
NM_005631.5:c.*792A>T MANE Select NP_005622.1:n.*792A>T
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