Canonical Allele Identifier: CA2580757304

Gene: SMO

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213282A>C , CM000669.2:g.129213282A>C	GRCh38
NC_000007.13:g.128853123A>C , CM000669.1:g.128853123A>C	GRCh37
NC_000007.12:g.128640359A>C	NCBI36
NG_023340.1:g.29411A>C
NG_023340.2:g.29411A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*831A>C MANE Select	ENSP00000249373.3:n.*831A>C
ENST00000655644.1:c.*2950A>C	ENSP00000499377.1:n.*2950A>C
ENST00000249373.7:c.*831A>C	ENSP00000249373.3:n.*831A>C
NM_005631.4:c.*831A>C	NP_005622.1:n.*831A>C
XM_011516522.1:c.*831A>C	XP_011514824.1:n.*831A>C
XM_024446891.1:c.*831A>C	XP_024302659.1:n.*831A>C
NM_005631.5:c.*831A>C MANE Select	NP_005622.1:n.*831A>C