Canonical Allele Identifier: CA1742695571

Gene: SMO

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129210500G= , CM000669.2:g.129210500G=	GRCh38
NC_000007.13:g.128850341G= , CM000669.1:g.128850341G=	GRCh37
NC_000007.12:g.128637577G=	NCBI36
NG_023340.1:g.26629G=
NG_023340.2:g.26629G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000249373.8:c.1604G= MANE Select	ENSP00000249373.3:p.Trp535=
ENST00000655644.1:c.*1359G=	ENSP00000499377.1:n.*1359G=
ENST00000249373.7:c.1604G=	ENSP00000249373.3:p.Trp535=
ENST00000462420.2:c.575G=
NM_005631.4:c.1604G=	NP_005622.1:p.Trp535=
XM_011516522.1:c.1214G=	XP_011514824.1:p.Trp405=
XM_024446891.1:c.1214G=	XP_024302659.1:p.Trp405=
NM_005631.5:c.1604G= MANE Select	NP_005622.1:p.Trp535=