Canonical Allele Identifier: CA2684857282

Gene: SMO

Linked Data

• gnomAD v4: 7-129213199-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213199A>C , CM000669.2:g.129213199A>C	GRCh38
NC_000007.13:g.128853040A>C , CM000669.1:g.128853040A>C	GRCh37
NC_000007.12:g.128640276A>C	NCBI36
NG_023340.1:g.29328A>C
NG_023340.2:g.29328A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*748A>C MANE Select	ENSP00000249373.3:n.*748A>C
ENST00000655644.1:c.*2867A>C	ENSP00000499377.1:n.*2867A>C
ENST00000249373.7:c.*748A>C	ENSP00000249373.3:n.*748A>C
NM_005631.4:c.*748A>C	NP_005622.1:n.*748A>C
XM_011516522.1:c.*748A>C	XP_011514824.1:n.*748A>C
XM_024446891.1:c.*748A>C	XP_024302659.1:n.*748A>C
NM_005631.5:c.*748A>C MANE Select	NP_005622.1:n.*748A>C