Canonical Allele Identifier: CA2777863376

Gene: SMO

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213060T>C , CM000669.2:g.129213060T>C	GRCh38
NC_000007.13:g.128852901T>C , CM000669.1:g.128852901T>C	GRCh37
NC_000007.12:g.128640137T>C	NCBI36
NG_023340.1:g.29189T>C
NG_023340.2:g.29189T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*609T>C MANE Select	ENSP00000249373.3:n.*609T>C
ENST00000655644.1:c.*2728T>C	ENSP00000499377.1:n.*2728T>C
ENST00000249373.7:c.*609T>C	ENSP00000249373.3:n.*609T>C
NM_005631.4:c.*609T>C	NP_005622.1:n.*609T>C
XM_011516522.1:c.*609T>C	XP_011514824.1:n.*609T>C
XM_024446891.1:c.*609T>C	XP_024302659.1:n.*609T>C
NM_005631.5:c.*609T>C MANE Select	NP_005622.1:n.*609T>C