Canonical Allele Identifier: CA369247119

Gene: SMO

Linked Data

• dbSNP Id: rs754958172
• MyVariant Identifiers: chr7:g.128850344T>A (hg19) ; chr7:g.129210503T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129210503T>A , CM000669.2:g.129210503T>A	GRCh38
NC_000007.13:g.128850344T>A , CM000669.1:g.128850344T>A	GRCh37
NC_000007.12:g.128637580T>A	NCBI36
NG_023340.1:g.26632T>A
NG_023340.2:g.26632T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.1607T>A MANE Select	ENSP00000249373.3:p.Val536Asp
ENST00000655644.1:c.*1362T>A	ENSP00000499377.1:n.*1362T>A
ENST00000249373.7:c.1607T>A	ENSP00000249373.3:p.Val536Asp
ENST00000462420.2:c.578T>A
NM_005631.4:c.1607T>A	NP_005622.1:p.Val536Asp
XM_011516522.1:c.1217T>A	XP_011514824.1:p.Val406Asp
XM_024446891.1:c.1217T>A	XP_024302659.1:p.Val406Asp
NM_005631.5:c.1607T>A MANE Select	NP_005622.1:p.Val536Asp