Canonical Allele Identifier: CA369247171

Gene: SMO

Linked Data

• dbSNP Id: rs2150653974
• MyVariant Identifiers: chr7:g.128850354G>T (hg19) ; chr7:g.129210513G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129210513G>T , CM000669.2:g.129210513G>T	GRCh38
NC_000007.13:g.128850354G>T , CM000669.1:g.128850354G>T	GRCh37
NC_000007.12:g.128637590G>T	NCBI36
NG_023340.1:g.26642G>T
NG_023340.2:g.26642G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.1617G>T MANE Select	ENSP00000249373.3:p.Lys539Asn
ENST00000655644.1:c.*1372G>T	ENSP00000499377.1:n.*1372G>T
ENST00000249373.7:c.1617G>T	ENSP00000249373.3:p.Lys539Asn
ENST00000462420.2:c.588G>T
ENST00000475779.1:c.6G>T	ENSP00000420749.1:p.Lys2Asn
NM_005631.4:c.1617G>T	NP_005622.1:p.Lys539Asn
XM_011516522.1:c.1227G>T	XP_011514824.1:p.Lys409Asn
XM_024446891.1:c.1227G>T	XP_024302659.1:p.Lys409Asn
NM_005631.5:c.1617G>T MANE Select	NP_005622.1:p.Lys539Asn