Canonical Allele Identifier: CA2685803947
Gene: SHH HGNC NCBI

Linked Data

gnomAD v4: 7-155812373-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812373A>T , CM000669.2:g.155812373A>T GRCh38
NC_000007.13:g.155605067A>T , CM000669.1:g.155605067A>T GRCh37
NC_000007.12:g.155297828A>T NCBI36
NG_007504.2:g.4901T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-251T>A MANE Select ENSP00000297261.2:n.-251T>A
NM_000193.4:c.-251T>A MANE Select NP_000184.1:n.-251T>A
Search 100 bp 5'
Search 100 bp 3'