Canonical Allele Identifier: CA1754784939
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs553827159
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812313G>T , CM000669.2:g.155812313G>T GRCh38
NC_000007.13:g.155605007G>T , CM000669.1:g.155605007G>T GRCh37
NC_000007.12:g.155297768G>T NCBI36
NG_007504.2:g.4961C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-191C>A MANE Select ENSP00000297261.2:n.-191C>A
NM_000193.4:c.-191C>A MANE Select NP_000184.1:n.-191C>A
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