Canonical Allele Identifier: CA369247137

Gene: SMO

Linked Data

• dbSNP Id: rs1793852389
• gnomAD v4: 7-129210507-G-A
• MyVariant Identifiers: chr7:g.128850348G>A (hg19) ; chr7:g.129210507G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129210507G>A , CM000669.2:g.129210507G>A	GRCh38
NC_000007.13:g.128850348G>A , CM000669.1:g.128850348G>A	GRCh37
NC_000007.12:g.128637584G>A	NCBI36
NG_023340.1:g.26636G>A
NG_023340.2:g.26636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.1611G>A MANE Select	ENSP00000249373.3:p.Trp537Ter
ENST00000655644.1:c.*1366G>A	ENSP00000499377.1:n.*1366G>A
ENST00000249373.7:c.1611G>A	ENSP00000249373.3:p.Trp537Ter
ENST00000462420.2:c.582G>A
NM_005631.4:c.1611G>A	NP_005622.1:p.Trp537Ter
XM_011516522.1:c.1221G>A	XP_011514824.1:p.Trp407Ter
XM_024446891.1:c.1221G>A	XP_024302659.1:p.Trp407Ter
NM_005631.5:c.1611G>A MANE Select	NP_005622.1:p.Trp537Ter