Canonical Allele Identifier: CA2685803709
Gene: SHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812258T>A , CM000669.2:g.155812258T>A GRCh38
NC_000007.13:g.155604952T>A , CM000669.1:g.155604952T>A GRCh37
NC_000007.12:g.155297713T>A NCBI36
NG_007504.2:g.5016A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-136A>T MANE Select ENSP00000297261.2:n.-136A>T
ENST00000297261.6:c.-136A>T ENSP00000297261.2:n.-136A>T
NM_000193.2:c.-136A>T NP_000184.1:n.-136A>T
NM_000193.3:c.-136A>T NP_000184.1:n.-136A>T
NM_000193.4:c.-136A>T MANE Select NP_000184.1:n.-136A>T