Canonical Allele Identifier: CA458893407
Gene: SHH HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.155604637T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155811943T>G , CM000669.2:g.155811943T>G GRCh38
NC_000007.13:g.155604637T>G , CM000669.1:g.155604637T>G GRCh37
NC_000007.12:g.155297398T>G NCBI36
NG_007504.2:g.5331A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.180A>C MANE Select ENSP00000297261.2:p.Gly60=
ENST00000297261.6:c.180A>C ENSP00000297261.2:p.Gly60=
NM_000193.2:c.180A>C NP_000184.1:p.Gly60=
NM_000193.3:c.180A>C NP_000184.1:p.Gly60=
NM_000193.4:c.180A>C MANE Select NP_000184.1:p.Gly60=