Canonical Allele Identifier: CA369246641
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs2150653721

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129210406A>C , CM000669.2:g.129210406A>C GRCh38
NC_000007.13:g.128850247A>C , CM000669.1:g.128850247A>C GRCh37
NC_000007.12:g.128637483A>C NCBI36
NG_023340.1:g.26535A>C
NG_023340.2:g.26535A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.1510A>C MANE Select ENSP00000249373.3:p.Ile504Leu
ENST00000655644.1:c.*1265A>C ENSP00000499377.1:n.*1265A>C
ENST00000249373.7:c.1510A>C ENSP00000249373.3:p.Ile504Leu
ENST00000462420.2:c.481A>C
NM_005631.4:c.1510A>C NP_005622.1:p.Ile504Leu
XM_011516522.1:c.1120A>C XP_011514824.1:p.Ile374Leu
XM_024446891.1:c.1120A>C XP_024302659.1:p.Ile374Leu
NM_005631.5:c.1510A>C MANE Select NP_005622.1:p.Ile504Leu