Canonical Allele Identifier: CA370151178
Gene: SHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155811868T>C , CM000669.2:g.155811868T>C GRCh38
NC_000007.13:g.155604562T>C , CM000669.1:g.155604562T>C GRCh37
NC_000007.12:g.155297323T>C NCBI36
NG_007504.2:g.5406A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.255A>G MANE Select ENSP00000297261.2:p.Ile85Met
ENST00000297261.6:c.255A>G ENSP00000297261.2:p.Ile85Met
NM_000193.2:c.255A>G NP_000184.1:p.Ile85Met
NM_000193.3:c.255A>G NP_000184.1:p.Ile85Met
NM_000193.4:c.255A>G MANE Select NP_000184.1:p.Ile85Met