Canonical Allele Identifier: CA577743466
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs1473526755
gnomAD v2: 7-128853001-A-C
gnomAD v3: 7-129213160-A-C
gnomAD v4: 7-129213160-A-C
MyVariant Identifiers: chr7:g.128853001A>C (hg19) chr7:g.129213160A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213160A>C , CM000669.2:g.129213160A>C GRCh38
NC_000007.13:g.128853001A>C , CM000669.1:g.128853001A>C GRCh37
NC_000007.12:g.128640237A>C NCBI36
NG_023340.1:g.29289A>C
NG_023340.2:g.29289A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*709A>C MANE Select ENSP00000249373.3:n.*709A>C
ENST00000655644.1:c.*2828A>C ENSP00000499377.1:n.*2828A>C
ENST00000249373.7:c.*709A>C ENSP00000249373.3:n.*709A>C
NM_005631.4:c.*709A>C NP_005622.1:n.*709A>C
XM_011516522.1:c.*709A>C XP_011514824.1:n.*709A>C
XM_024446891.1:c.*709A>C XP_024302659.1:n.*709A>C
NM_005631.5:c.*709A>C MANE Select NP_005622.1:n.*709A>C
Search 100 bp 5'
Search 100 bp 3'