Canonical Allele Identifier: CA1754785036
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1584806363

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812351A>G , CM000669.2:g.155812351A>G GRCh38
NC_000007.13:g.155605045A>G , CM000669.1:g.155605045A>G GRCh37
NC_000007.12:g.155297806A>G NCBI36
NG_007504.2:g.4923T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-229T>C MANE Select ENSP00000297261.2:n.-229T>C
NM_000193.4:c.-229T>C MANE Select NP_000184.1:n.-229T>C