Canonical Allele Identifier: CA166270242
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs1035939263
gnomAD v4: 7-129212993-G-A
MyVariant Identifiers: chr7:g.128852834G>A (hg19) chr7:g.129212993G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129212993G>A , CM000669.2:g.129212993G>A GRCh38
NC_000007.13:g.128852834G>A , CM000669.1:g.128852834G>A GRCh37
NC_000007.12:g.128640070G>A NCBI36
NG_023340.1:g.29122G>A
NG_023340.2:g.29122G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*542G>A MANE Select ENSP00000249373.3:n.*542G>A
ENST00000655644.1:c.*2661G>A ENSP00000499377.1:n.*2661G>A
ENST00000249373.7:c.*542G>A ENSP00000249373.3:n.*542G>A
NM_005631.4:c.*542G>A NP_005622.1:n.*542G>A
XM_011516522.1:c.*542G>A XP_011514824.1:n.*542G>A
XM_024446891.1:c.*542G>A XP_024302659.1:n.*542G>A
NM_005631.5:c.*542G>A MANE Select NP_005622.1:n.*542G>A
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