Canonical Allele Identifier: CA1754784758
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1777817619
gnomAD v4: 7-155812215-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812215C>T , CM000669.2:g.155812215C>T GRCh38
NC_000007.13:g.155604909C>T , CM000669.1:g.155604909C>T GRCh37
NC_000007.12:g.155297670C>T NCBI36
NG_007504.2:g.5059G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-93G>A MANE Select ENSP00000297261.2:n.-93G>A
ENST00000297261.6:c.-93G>A ENSP00000297261.2:n.-93G>A
NM_000193.2:c.-93G>A NP_000184.1:n.-93G>A
NM_000193.3:c.-93G>A NP_000184.1:n.-93G>A
NM_000193.4:c.-93G>A MANE Select NP_000184.1:n.-93G>A
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