Canonical Allele Identifier: CA369247174

Gene: SMO

Linked Data

• MyVariant Identifiers: chr7:g.128850355G>A (hg19) ; chr7:g.129210514G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129210514G>A , CM000669.2:g.129210514G>A	GRCh38
NC_000007.13:g.128850355G>A , CM000669.1:g.128850355G>A	GRCh37
NC_000007.12:g.128637591G>A	NCBI36
NG_023340.1:g.26643G>A
NG_023340.2:g.26643G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.1618G>A MANE Select	ENSP00000249373.3:p.Ala540Thr
ENST00000655644.1:c.*1373G>A	ENSP00000499377.1:n.*1373G>A
ENST00000249373.7:c.1618G>A	ENSP00000249373.3:p.Ala540Thr
ENST00000462420.2:c.589G>A
ENST00000475779.1:c.7G>A	ENSP00000420749.1:p.Ala3Thr
NM_005631.4:c.1618G>A	NP_005622.1:p.Ala540Thr
XM_011516522.1:c.1228G>A	XP_011514824.1:p.Ala410Thr
XM_024446891.1:c.1228G>A	XP_024302659.1:p.Ala410Thr
NM_005631.5:c.1618G>A MANE Select	NP_005622.1:p.Ala540Thr