Canonical Allele Identifier: CA1754783939
Community Standard Title: NM_000193.4(SHH):c.91G= (p.Gly31=)
Gene: SHH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812032C= , CM000669.2:g.155812032C= GRCh38
NC_000007.13:g.155604726C= , CM000669.1:g.155604726C= GRCh37
NC_000007.12:g.155297487C= NCBI36
NG_007504.2:g.5242G=

Transcript Alleles

HGVS Amino-acid Change
NM_000193.4:c.91G= MANE Select NP_000184.1:p.Gly31=
ENST00000297261.7:c.91G= MANE Select ENSP00000297261.2:p.Gly31=
NM_000193.2:c.91G= NP_000184.1:p.Gly31=
NM_000193.3:c.91G= NP_000184.1:p.Gly31=
ENST00000297261.6:c.91G= ENSP00000297261.2:p.Gly31=