Canonical Allele Identifier: CA2579074899
Gene: SHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812204G>A , CM000669.2:g.155812204G>A GRCh38
NC_000007.13:g.155604898G>A , CM000669.1:g.155604898G>A GRCh37
NC_000007.12:g.155297659G>A NCBI36
NG_007504.2:g.5070C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-82C>T MANE Select ENSP00000297261.2:n.-82C>T
ENST00000297261.6:c.-82C>T ENSP00000297261.2:n.-82C>T
NM_000193.2:c.-82C>T NP_000184.1:n.-82C>T
NM_000193.3:c.-82C>T NP_000184.1:n.-82C>T
NM_000193.4:c.-82C>T MANE Select NP_000184.1:n.-82C>T