Canonical Allele Identifier: CA577743470
Gene: SMO HGNC NCBI

Linked Data

gnomAD v2: 7-128853117-T-G
MyVariant Identifiers: chr7:g.128853117T>G (hg19) chr7:g.129213276T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213276T>G , CM000669.2:g.129213276T>G GRCh38
NC_000007.13:g.128853117T>G , CM000669.1:g.128853117T>G GRCh37
NC_000007.12:g.128640353T>G NCBI36
NG_023340.1:g.29405T>G
NG_023340.2:g.29405T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*825T>G MANE Select ENSP00000249373.3:n.*825T>G
ENST00000655644.1:c.*2944T>G ENSP00000499377.1:n.*2944T>G
ENST00000249373.7:c.*825T>G ENSP00000249373.3:n.*825T>G
NM_005631.4:c.*825T>G NP_005622.1:n.*825T>G
XM_011516522.1:c.*825T>G XP_011514824.1:n.*825T>G
XM_024446891.1:c.*825T>G XP_024302659.1:n.*825T>G
NM_005631.5:c.*825T>G MANE Select NP_005622.1:n.*825T>G
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