Canonical Allele Identifier: CA457628271
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs2150653947
MyVariant Identifiers: chr7:g.128850345C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129210504C>A , CM000669.2:g.129210504C>A GRCh38
NC_000007.13:g.128850345C>A , CM000669.1:g.128850345C>A GRCh37
NC_000007.12:g.128637581C>A NCBI36
NG_023340.1:g.26633C>A
NG_023340.2:g.26633C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.1608C>A MANE Select ENSP00000249373.3:p.Val536=
ENST00000655644.1:c.*1363C>A ENSP00000499377.1:n.*1363C>A
ENST00000249373.7:c.1608C>A ENSP00000249373.3:p.Val536=
ENST00000462420.2:c.579C>A
NM_005631.4:c.1608C>A NP_005622.1:p.Val536=
XM_011516522.1:c.1218C>A XP_011514824.1:p.Val406=
XM_024446891.1:c.1218C>A XP_024302659.1:p.Val406=
NM_005631.5:c.1608C>A MANE Select NP_005622.1:p.Val536=
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