Canonical Allele Identifier: CA1754784047
Gene: SHH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812071C= , CM000669.2:g.155812071C= GRCh38
NC_000007.13:g.155604765C= , CM000669.1:g.155604765C= GRCh37
NC_000007.12:g.155297526C= NCBI36
NG_007504.2:g.5203G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.52G= MANE Select ENSP00000297261.2:p.Val18=
ENST00000297261.6:c.52G= ENSP00000297261.2:p.Val18=
NM_000193.2:c.52G= NP_000184.1:p.Val18=
NM_000193.3:c.52G= NP_000184.1:p.Val18=
NM_000193.4:c.52G= MANE Select NP_000184.1:p.Val18=