Canonical Allele Identifier: CA2684856754
Gene: SMO HGNC NCBI

Linked Data

gnomAD v4: 7-129212998-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129212998C>A , CM000669.2:g.129212998C>A GRCh38
NC_000007.13:g.128852839C>A , CM000669.1:g.128852839C>A GRCh37
NC_000007.12:g.128640075C>A NCBI36
NG_023340.1:g.29127C>A
NG_023340.2:g.29127C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*547C>A MANE Select ENSP00000249373.3:n.*547C>A
ENST00000655644.1:c.*2666C>A ENSP00000499377.1:n.*2666C>A
ENST00000249373.7:c.*547C>A ENSP00000249373.3:n.*547C>A
NM_005631.4:c.*547C>A NP_005622.1:n.*547C>A
XM_011516522.1:c.*547C>A XP_011514824.1:n.*547C>A
XM_024446891.1:c.*547C>A XP_024302659.1:n.*547C>A
NM_005631.5:c.*547C>A MANE Select NP_005622.1:n.*547C>A
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