Canonical Allele Identifier: CA2684856539
Gene: SMO HGNC NCBI

Linked Data

gnomAD v4: 7-129212920-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129212920C>A , CM000669.2:g.129212920C>A GRCh38
NC_000007.13:g.128852761C>A , CM000669.1:g.128852761C>A GRCh37
NC_000007.12:g.128639997C>A NCBI36
NG_023340.1:g.29049C>A
NG_023340.2:g.29049C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*469C>A MANE Select ENSP00000249373.3:n.*469C>A
ENST00000655644.1:c.*2588C>A ENSP00000499377.1:n.*2588C>A
ENST00000249373.7:c.*469C>A ENSP00000249373.3:n.*469C>A
NM_005631.4:c.*469C>A NP_005622.1:n.*469C>A
XM_011516522.1:c.*469C>A XP_011514824.1:n.*469C>A
XM_024446891.1:c.*469C>A XP_024302659.1:n.*469C>A
NM_005631.5:c.*469C>A MANE Select NP_005622.1:n.*469C>A
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