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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA370152343
Gene: SHH
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr7:g.155604726C>A (hg19)
chr7:g.155812032C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.155812032C>A , CM000669.2:g.155812032C>A
GRCh38
NC_000007.13:g.155604726C>A , CM000669.1:g.155604726C>A
GRCh37
NC_000007.12:g.155297487C>A
NCBI36
NG_007504.2:g.5242G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000297261.7:c.91G>T
MANE Select
ENSP00000297261.2:p.Gly31Trp
ENST00000297261.6:c.91G>T
ENSP00000297261.2:p.Gly31Trp
NM_000193.2:c.91G>T
NP_000184.1:p.Gly31Trp
NM_000193.3:c.91G>T
NP_000184.1:p.Gly31Trp
NM_000193.4:c.91G>T
MANE Select
NP_000184.1:p.Gly31Trp
Search 100 bp 5'
Search 100 bp 3'