Canonical Allele Identifier: CA457628275
Gene: SMO HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.128850351C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129210510C>G , CM000669.2:g.129210510C>G GRCh38
NC_000007.13:g.128850351C>G , CM000669.1:g.128850351C>G GRCh37
NC_000007.12:g.128637587C>G NCBI36
NG_023340.1:g.26639C>G
NG_023340.2:g.26639C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.1614C>G MANE Select ENSP00000249373.3:p.Thr538=
ENST00000655644.1:c.*1369C>G ENSP00000499377.1:n.*1369C>G
ENST00000249373.7:c.1614C>G ENSP00000249373.3:p.Thr538=
ENST00000462420.2:c.585C>G
ENST00000475779.1:c.3C>G ENSP00000420749.1:p.Thr1=
NM_005631.4:c.1614C>G NP_005622.1:p.Thr538=
XM_011516522.1:c.1224C>G XP_011514824.1:p.Thr408=
XM_024446891.1:c.1224C>G XP_024302659.1:p.Thr408=
NM_005631.5:c.1614C>G MANE Select NP_005622.1:p.Thr538=
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