Canonical Allele Identifier: CA577743460
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs1324305821
gnomAD v2: 7-128852831-C-T
gnomAD v3: 7-129212990-C-T
gnomAD v4: 7-129212990-C-T
MyVariant Identifiers: chr7:g.128852831C>T (hg19) chr7:g.129212990C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129212990C>T , CM000669.2:g.129212990C>T GRCh38
NC_000007.13:g.128852831C>T , CM000669.1:g.128852831C>T GRCh37
NC_000007.12:g.128640067C>T NCBI36
NG_023340.1:g.29119C>T
NG_023340.2:g.29119C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*539C>T MANE Select ENSP00000249373.3:n.*539C>T
ENST00000655644.1:c.*2658C>T ENSP00000499377.1:n.*2658C>T
ENST00000249373.7:c.*539C>T ENSP00000249373.3:n.*539C>T
NM_005631.4:c.*539C>T NP_005622.1:n.*539C>T
XM_011516522.1:c.*539C>T XP_011514824.1:n.*539C>T
XM_024446891.1:c.*539C>T XP_024302659.1:n.*539C>T
NM_005631.5:c.*539C>T MANE Select NP_005622.1:n.*539C>T
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