Canonical Allele Identifier: CA2684856652
Gene: SMO HGNC NCBI

Linked Data

gnomAD v4: 7-129212966-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129212966C>T , CM000669.2:g.129212966C>T GRCh38
NC_000007.13:g.128852807C>T , CM000669.1:g.128852807C>T GRCh37
NC_000007.12:g.128640043C>T NCBI36
NG_023340.1:g.29095C>T
NG_023340.2:g.29095C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*515C>T MANE Select ENSP00000249373.3:n.*515C>T
ENST00000655644.1:c.*2634C>T ENSP00000499377.1:n.*2634C>T
ENST00000249373.7:c.*515C>T ENSP00000249373.3:n.*515C>T
NM_005631.4:c.*515C>T NP_005622.1:n.*515C>T
XM_011516522.1:c.*515C>T XP_011514824.1:n.*515C>T
XM_024446891.1:c.*515C>T XP_024302659.1:n.*515C>T
NM_005631.5:c.*515C>T MANE Select NP_005622.1:n.*515C>T
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