Canonical Allele Identifier: CA370152364
Gene: SHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812034A>T , CM000669.2:g.155812034A>T GRCh38
NC_000007.13:g.155604728A>T , CM000669.1:g.155604728A>T GRCh37
NC_000007.12:g.155297489A>T NCBI36
NG_007504.2:g.5240T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.89T>A MANE Select ENSP00000297261.2:p.Phe30Tyr
ENST00000297261.6:c.89T>A ENSP00000297261.2:p.Phe30Tyr
NM_000193.2:c.89T>A NP_000184.1:p.Phe30Tyr
NM_000193.3:c.89T>A NP_000184.1:p.Phe30Tyr
NM_000193.4:c.89T>A MANE Select NP_000184.1:p.Phe30Tyr