Canonical Allele Identifier: CA369246653
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs2150653730
MyVariant Identifiers: chr7:g.128850250C>A (hg19) chr7:g.129210409C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129210409C>A , CM000669.2:g.129210409C>A GRCh38
NC_000007.13:g.128850250C>A , CM000669.1:g.128850250C>A GRCh37
NC_000007.12:g.128637486C>A NCBI36
NG_023340.1:g.26538C>A
NG_023340.2:g.26538C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.1513C>A MANE Select ENSP00000249373.3:p.Pro505Thr
ENST00000655644.1:c.*1268C>A ENSP00000499377.1:n.*1268C>A
ENST00000249373.7:c.1513C>A ENSP00000249373.3:p.Pro505Thr
ENST00000462420.2:c.484C>A
NM_005631.4:c.1513C>A NP_005622.1:p.Pro505Thr
XM_011516522.1:c.1123C>A XP_011514824.1:p.Pro375Thr
XM_024446891.1:c.1123C>A XP_024302659.1:p.Pro375Thr
NM_005631.5:c.1513C>A MANE Select NP_005622.1:p.Pro505Thr
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