Canonical Allele Identifier: CA369247152

Gene: SMO

Linked Data

• MyVariant Identifiers: chr7:g.128850350C>A (hg19) ; chr7:g.129210509C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129210509C>A , CM000669.2:g.129210509C>A	GRCh38
NC_000007.13:g.128850350C>A , CM000669.1:g.128850350C>A	GRCh37
NC_000007.12:g.128637586C>A	NCBI36
NG_023340.1:g.26638C>A
NG_023340.2:g.26638C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.1613C>A MANE Select	ENSP00000249373.3:p.Thr538Asn
ENST00000655644.1:c.*1368C>A	ENSP00000499377.1:n.*1368C>A
ENST00000249373.7:c.1613C>A	ENSP00000249373.3:p.Thr538Asn
ENST00000462420.2:c.584C>A
ENST00000475779.1:c.2C>A	ENSP00000420749.1:p.Thr1Asn
NM_005631.4:c.1613C>A	NP_005622.1:p.Thr538Asn
XM_011516522.1:c.1223C>A	XP_011514824.1:p.Thr408Asn
XM_024446891.1:c.1223C>A	XP_024302659.1:p.Thr408Asn
NM_005631.5:c.1613C>A MANE Select	NP_005622.1:p.Thr538Asn