Canonical Allele Identifier: CA2685803887
Gene: SHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812339G>T , CM000669.2:g.155812339G>T GRCh38
NC_000007.13:g.155605033G>T , CM000669.1:g.155605033G>T GRCh37
NC_000007.12:g.155297794G>T NCBI36
NG_007504.2:g.4935C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-217C>A MANE Select ENSP00000297261.2:n.-217C>A
NM_000193.4:c.-217C>A MANE Select NP_000184.1:n.-217C>A