Canonical Allele Identifier: CA370152710
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1803535665
MyVariant Identifiers: chr7:g.155604791A>G (hg19) chr7:g.155812097A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812097A>G , CM000669.2:g.155812097A>G GRCh38
NC_000007.13:g.155604791A>G , CM000669.1:g.155604791A>G GRCh37
NC_000007.12:g.155297552A>G NCBI36
NG_007504.2:g.5177T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.26T>C MANE Select ENSP00000297261.2:p.Leu9Pro
ENST00000297261.6:c.26T>C ENSP00000297261.2:p.Leu9Pro
NM_000193.2:c.26T>C NP_000184.1:p.Leu9Pro
NM_000193.3:c.26T>C NP_000184.1:p.Leu9Pro
NM_000193.4:c.26T>C MANE Select NP_000184.1:p.Leu9Pro
Search 100 bp 5'
Search 100 bp 3'