Canonical Allele Identifier: CA1107087315

Gene: SMO

Linked Data

• dbSNP Id: rs1793908885
• gnomAD v3: 7-129213206-A-AG
• gnomAD v4: 7-129213206-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213207dup , CM000669.2:g.129213207dup	GRCh38
NC_000007.13:g.128853048dup , CM000669.1:g.128853048dup	GRCh37
NC_000007.12:g.128640284dup	NCBI36
NG_023340.1:g.29336dup
NG_023340.2:g.29336dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*756dup MANE Select	ENSP00000249373.3:n.*756dup
ENST00000655644.1:c.*2875dup	ENSP00000499377.1:n.*2875dup
ENST00000249373.7:c.*756dup	ENSP00000249373.3:n.*756dup
NM_005631.4:c.*756dup	NP_005622.1:n.*756dup
XM_011516522.1:c.*756dup	XP_011514824.1:n.*756dup
XM_024446891.1:c.*756dup	XP_024302659.1:n.*756dup
NM_005631.5:c.*756dup MANE Select	NP_005622.1:n.*756dup