Canonical Allele Identifier: CA2685803941
Gene: SHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812369G>A , CM000669.2:g.155812369G>A GRCh38
NC_000007.13:g.155605063G>A , CM000669.1:g.155605063G>A GRCh37
NC_000007.12:g.155297824G>A NCBI36
NG_007504.2:g.4905C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-247C>T MANE Select ENSP00000297261.2:n.-247C>T
NM_000193.4:c.-247C>T MANE Select NP_000184.1:n.-247C>T