Canonical Allele Identifier: CA2685803697
Gene: SHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812254T>G , CM000669.2:g.155812254T>G GRCh38
NC_000007.13:g.155604948T>G , CM000669.1:g.155604948T>G GRCh37
NC_000007.12:g.155297709T>G NCBI36
NG_007504.2:g.5020A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-132A>C MANE Select ENSP00000297261.2:n.-132A>C
ENST00000297261.6:c.-132A>C ENSP00000297261.2:n.-132A>C
NM_000193.2:c.-132A>C NP_000184.1:n.-132A>C
NM_000193.3:c.-132A>C NP_000184.1:n.-132A>C
NM_000193.4:c.-132A>C MANE Select NP_000184.1:n.-132A>C