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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:
CA350591827
Gene: CYP27A1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.219678817A>T (hg19)
chr2:g.218814094A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.218814094A>T , CM000664.2:g.218814094A>T
GRCh38
NC_000002.11:g.219678817A>T , CM000664.1:g.219678817A>T
GRCh37
NC_000002.10:g.219387061A>T
NCBI36
NG_007959.1:g.37346A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000258415.9:c.1091A>T
MANE Select
ENSP00000258415.4:p.Glu364Val
ENST00000258415.8:c.1091A>T
ENSP00000258415.4:p.Glu364Val
ENST00000494263.5:n.1525A>T
NM_000784.3:c.1091A>T
NP_000775.1:p.Glu364Val
XM_017003488.2:c.671A>T
XP_016858977.1:p.Glu224Val
NM_000784.4:c.1091A>T
MANE Select
NP_000775.1:p.Glu364Val
Search 100 bp 5'
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