Canonical Allele Identifier: CA2685803838
Gene: SHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812315G>T , CM000669.2:g.155812315G>T GRCh38
NC_000007.13:g.155605009G>T , CM000669.1:g.155605009G>T GRCh37
NC_000007.12:g.155297770G>T NCBI36
NG_007504.2:g.4959C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-193C>A MANE Select ENSP00000297261.2:n.-193C>A
NM_000193.4:c.-193C>A MANE Select NP_000184.1:n.-193C>A