Canonical Allele Identifier: CA370151918
Gene: SHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155811977G>T , CM000669.2:g.155811977G>T GRCh38
NC_000007.13:g.155604671G>T , CM000669.1:g.155604671G>T GRCh37
NC_000007.12:g.155297432G>T NCBI36
NG_007504.2:g.5297C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.146C>A MANE Select ENSP00000297261.2:p.Pro49His
ENST00000297261.6:c.146C>A ENSP00000297261.2:p.Pro49His
NM_000193.2:c.146C>A NP_000184.1:p.Pro49His
NM_000193.3:c.146C>A NP_000184.1:p.Pro49His
NM_000193.4:c.146C>A MANE Select NP_000184.1:p.Pro49His