Canonical Allele Identifier: CA1754783925
Gene: SHH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812029T= , CM000669.2:g.155812029T= GRCh38
NC_000007.13:g.155604723T= , CM000669.1:g.155604723T= GRCh37
NC_000007.12:g.155297484T= NCBI36
NG_007504.2:g.5245A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.94A= MANE Select ENSP00000297261.2:p.Lys32=
ENST00000297261.6:c.94A= ENSP00000297261.2:p.Lys32=
NM_000193.2:c.94A= NP_000184.1:p.Lys32=
NM_000193.3:c.94A= NP_000184.1:p.Lys32=
NM_000193.4:c.94A= MANE Select NP_000184.1:p.Lys32=