Canonical Allele Identifier: CA833182399

Gene: SMO

Linked Data

• dbSNP Id: rs1192736025
• gnomAD v4: 7-129213193-A-G
• MyVariant Identifiers: chr7:g.128853034A>G (hg19) ; chr7:g.129213193A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213193A>G , CM000669.2:g.129213193A>G	GRCh38
NC_000007.13:g.128853034A>G , CM000669.1:g.128853034A>G	GRCh37
NC_000007.12:g.128640270A>G	NCBI36
NG_023340.1:g.29322A>G
NG_023340.2:g.29322A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*742A>G MANE Select	ENSP00000249373.3:n.*742A>G
ENST00000655644.1:c.*2861A>G	ENSP00000499377.1:n.*2861A>G
ENST00000249373.7:c.*742A>G	ENSP00000249373.3:n.*742A>G
NM_005631.4:c.*742A>G	NP_005622.1:n.*742A>G
XM_011516522.1:c.*742A>G	XP_011514824.1:n.*742A>G
XM_024446891.1:c.*742A>G	XP_024302659.1:n.*742A>G
NM_005631.5:c.*742A>G MANE Select	NP_005622.1:n.*742A>G