Canonical Allele Identifier: CA369247122
Gene: SMO HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.128850344T>G (hg19) chr7:g.129210503T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129210503T>G , CM000669.2:g.129210503T>G GRCh38
NC_000007.13:g.128850344T>G , CM000669.1:g.128850344T>G GRCh37
NC_000007.12:g.128637580T>G NCBI36
NG_023340.1:g.26632T>G
NG_023340.2:g.26632T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.1607T>G MANE Select ENSP00000249373.3:p.Val536Gly
ENST00000655644.1:c.*1362T>G ENSP00000499377.1:n.*1362T>G
ENST00000249373.7:c.1607T>G ENSP00000249373.3:p.Val536Gly
ENST00000462420.2:c.578T>G
NM_005631.4:c.1607T>G NP_005622.1:p.Val536Gly
XM_011516522.1:c.1217T>G XP_011514824.1:p.Val406Gly
XM_024446891.1:c.1217T>G XP_024302659.1:p.Val406Gly
NM_005631.5:c.1607T>G MANE Select NP_005622.1:p.Val536Gly
Search 100 bp 5'
Search 100 bp 3'