Canonical Allele Identifier: CA369247142
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs1793852389
MyVariant Identifiers: chr7:g.128850348G>C (hg19) chr7:g.129210507G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129210507G>C , CM000669.2:g.129210507G>C GRCh38
NC_000007.13:g.128850348G>C , CM000669.1:g.128850348G>C GRCh37
NC_000007.12:g.128637584G>C NCBI36
NG_023340.1:g.26636G>C
NG_023340.2:g.26636G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000249373.8:c.1611G>C MANE Select ENSP00000249373.3:p.Trp537Cys
ENST00000655644.1:c.*1366G>C ENSP00000499377.1:n.*1366G>C
ENST00000249373.7:c.1611G>C ENSP00000249373.3:p.Trp537Cys
ENST00000462420.2:c.582G>C
NM_005631.4:c.1611G>C NP_005622.1:p.Trp537Cys
XM_011516522.1:c.1221G>C XP_011514824.1:p.Trp407Cys
XM_024446891.1:c.1221G>C XP_024302659.1:p.Trp407Cys
NM_005631.5:c.1611G>C MANE Select NP_005622.1:p.Trp537Cys
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