Canonical Allele Identifier: CA369247114
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs1367686794
gnomAD v2: 7-128850343-G-A
gnomAD v3: 7-129210502-G-A
gnomAD v4: 7-129210502-G-A
MyVariant Identifiers: chr7:g.128850343G>A (hg19) chr7:g.129210502G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129210502G>A , CM000669.2:g.129210502G>A GRCh38
NC_000007.13:g.128850343G>A , CM000669.1:g.128850343G>A GRCh37
NC_000007.12:g.128637579G>A NCBI36
NG_023340.1:g.26631G>A
NG_023340.2:g.26631G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.1606G>A MANE Select ENSP00000249373.3:p.Val536Ile
ENST00000655644.1:c.*1361G>A ENSP00000499377.1:n.*1361G>A
ENST00000249373.7:c.1606G>A ENSP00000249373.3:p.Val536Ile
ENST00000462420.2:c.577G>A
NM_005631.4:c.1606G>A NP_005622.1:p.Val536Ile
XM_011516522.1:c.1216G>A XP_011514824.1:p.Val406Ile
XM_024446891.1:c.1216G>A XP_024302659.1:p.Val406Ile
NM_005631.5:c.1606G>A MANE Select NP_005622.1:p.Val536Ile
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