Canonical Allele Identifier: CA1754784888
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1803540595
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812283T>C , CM000669.2:g.155812283T>C GRCh38
NC_000007.13:g.155604977T>C , CM000669.1:g.155604977T>C GRCh37
NC_000007.12:g.155297738T>C NCBI36
NG_007504.2:g.4991A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-161A>G MANE Select ENSP00000297261.2:n.-161A>G
NM_000193.4:c.-161A>G MANE Select NP_000184.1:n.-161A>G
Search 100 bp 5'
Search 100 bp 3'