Canonical Allele Identifier: CA1754783534
Gene: SHH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155811873T= , CM000669.2:g.155811873T= GRCh38
NC_000007.13:g.155604567T= , CM000669.1:g.155604567T= GRCh37
NC_000007.12:g.155297328T= NCBI36
NG_007504.2:g.5401A=

Transcript Alleles

HGVS Amino-acid change
ENST00000297261.7:c.250A= MANE Select ENSP00000297261.2:p.Ile84=
ENST00000297261.6:c.250A= ENSP00000297261.2:p.Ile84=
NM_000193.2:c.250A= NP_000184.1:p.Ile84=
NM_000193.3:c.250A= NP_000184.1:p.Ile84=
NM_000193.4:c.250A= MANE Select NP_000184.1:p.Ile84=