Canonical Allele Identifier: CA369247147

Gene: SMO

Linked Data

• gnomAD v4: 7-129210508-A-G
• MyVariant Identifiers: chr7:g.128850349A>G (hg19) ; chr7:g.129210508A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129210508A>G , CM000669.2:g.129210508A>G	GRCh38
NC_000007.13:g.128850349A>G , CM000669.1:g.128850349A>G	GRCh37
NC_000007.12:g.128637585A>G	NCBI36
NG_023340.1:g.26637A>G
NG_023340.2:g.26637A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.1612A>G MANE Select	ENSP00000249373.3:p.Thr538Ala
ENST00000655644.1:c.*1367A>G	ENSP00000499377.1:n.*1367A>G
ENST00000249373.7:c.1612A>G	ENSP00000249373.3:p.Thr538Ala
ENST00000462420.2:c.583A>G
ENST00000475779.1:c.1A>G	ENSP00000420749.1:p.Thr1Ala
NM_005631.4:c.1612A>G	NP_005622.1:p.Thr538Ala
XM_011516522.1:c.1222A>G	XP_011514824.1:p.Thr408Ala
XM_024446891.1:c.1222A>G	XP_024302659.1:p.Thr408Ala
NM_005631.5:c.1612A>G MANE Select	NP_005622.1:p.Thr538Ala