Canonical Allele Identifier: CA1742695597

Gene: SMO

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129210511A= , CM000669.2:g.129210511A=	GRCh38
NC_000007.13:g.128850352A= , CM000669.1:g.128850352A=	GRCh37
NC_000007.12:g.128637588A=	NCBI36
NG_023340.1:g.26640A=
NG_023340.2:g.26640A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.1615A= MANE Select	ENSP00000249373.3:p.Lys539=
ENST00000655644.1:c.*1370A=	ENSP00000499377.1:n.*1370A=
ENST00000249373.7:c.1615A=	ENSP00000249373.3:p.Lys539=
ENST00000462420.2:c.586A=
ENST00000475779.1:c.4A=	ENSP00000420749.1:p.Lys2=
NM_005631.4:c.1615A=	NP_005622.1:p.Lys539=
XM_011516522.1:c.1225A=	XP_011514824.1:p.Lys409=
XM_024446891.1:c.1225A=	XP_024302659.1:p.Lys409=
NM_005631.5:c.1615A= MANE Select	NP_005622.1:p.Lys539=