Canonical Allele Identifier: CA369247108
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs1793852236
MyVariant Identifiers: chr7:g.128850342G>A (hg19) chr7:g.129210501G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129210501G>A , CM000669.2:g.129210501G>A GRCh38
NC_000007.13:g.128850342G>A , CM000669.1:g.128850342G>A GRCh37
NC_000007.12:g.128637578G>A NCBI36
NG_023340.1:g.26630G>A
NG_023340.2:g.26630G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000249373.8:c.1605G>A MANE Select ENSP00000249373.3:p.Trp535Ter
ENST00000655644.1:c.*1360G>A ENSP00000499377.1:n.*1360G>A
ENST00000249373.7:c.1605G>A ENSP00000249373.3:p.Trp535Ter
ENST00000462420.2:c.576G>A
NM_005631.4:c.1605G>A NP_005622.1:p.Trp535Ter
XM_011516522.1:c.1215G>A XP_011514824.1:p.Trp405Ter
XM_024446891.1:c.1215G>A XP_024302659.1:p.Trp405Ter
NM_005631.5:c.1605G>A MANE Select NP_005622.1:p.Trp535Ter
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