Canonical Allele Identifier: CA1754784638
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1803537904

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812167C>T , CM000669.2:g.155812167C>T GRCh38
NC_000007.13:g.155604861C>T , CM000669.1:g.155604861C>T GRCh37
NC_000007.12:g.155297622C>T NCBI36
NG_007504.2:g.5107G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-45G>A MANE Select ENSP00000297261.2:n.-45G>A
ENST00000297261.6:c.-45G>A ENSP00000297261.2:n.-45G>A
NM_000193.2:c.-45G>A NP_000184.1:n.-45G>A
NM_000193.3:c.-45G>A NP_000184.1:n.-45G>A
NM_000193.4:c.-45G>A MANE Select NP_000184.1:n.-45G>A