Canonical Allele Identifier: CA2684856657
Gene: SMO HGNC NCBI

Linked Data

gnomAD v4: 7-129212968-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129212968G>T , CM000669.2:g.129212968G>T GRCh38
NC_000007.13:g.128852809G>T , CM000669.1:g.128852809G>T GRCh37
NC_000007.12:g.128640045G>T NCBI36
NG_023340.1:g.29097G>T
NG_023340.2:g.29097G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*517G>T MANE Select ENSP00000249373.3:n.*517G>T
ENST00000655644.1:c.*2636G>T ENSP00000499377.1:n.*2636G>T
ENST00000249373.7:c.*517G>T ENSP00000249373.3:n.*517G>T
NM_005631.4:c.*517G>T NP_005622.1:n.*517G>T
XM_011516522.1:c.*517G>T XP_011514824.1:n.*517G>T
XM_024446891.1:c.*517G>T XP_024302659.1:n.*517G>T
NM_005631.5:c.*517G>T MANE Select NP_005622.1:n.*517G>T
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