Canonical Allele Identifier: CA162186
Gene: SMO HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.129209348G>A
GRCh37 chr7:g.128849189G>A
Revel Score:
ENST00000249373 (MANE Select) 0.682
gnomAD v2:
7:128849189 G / A
gnomAD v3:
7:129209348 G / A
gnomAD v4:
chr7-129209348-G-A
Joint Max Group AF 0.00024065 (EAS)
Exomes Max Group AF 0.00025244 (EAS)
ClinVar Allele:
139009
ClinVar RCV:
RCV000122084
ClinVar Variation:
135270
dbSNP:
17710891
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129209348G>A , CM000669.2:g.129209348G>A GRCh38
NC_000007.13:g.128849189G>A , CM000669.1:g.128849189G>A GRCh37
NC_000007.12:g.128636425G>A NCBI36
NG_023340.1:g.25477G>A
NG_023340.2:g.25477G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.1417G>A MANE Select ENSP00000249373.3:p.Asp473Asn
ENST00000655644.1:c.*1221+497G>A ENSP00000499377.1:n.*1221+497G>A
ENST00000249373.7:c.1417G>A ENSP00000249373.3:p.Asp473Asn
ENST00000462420.2:c.437+497G>A
NM_005631.4:c.1417G>A NP_005622.1:p.Asp473Asn
XM_011516522.1:c.1027G>A XP_011514824.1:p.Asp343Asn
XM_024446891.1:c.1027G>A XP_024302659.1:p.Asp343Asn
NM_005631.5:c.1417G>A MANE Select NP_005622.1:p.Asp473Asn
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