Canonical Allele Identifier: CA1754785101
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1803542587
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812390A>C , CM000669.2:g.155812390A>C GRCh38
NC_000007.13:g.155605084A>C , CM000669.1:g.155605084A>C GRCh37
NC_000007.12:g.155297845A>C NCBI36
NG_007504.2:g.4884T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-268T>G MANE Select ENSP00000297261.2:n.-268T>G
NM_000193.4:c.-268T>G MANE Select NP_000184.1:n.-268T>G
Search 100 bp 5'
Search 100 bp 3'