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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:
CA65834619
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1385329
ClinVar RCV Id:
RCV001888764
dbSNP Id:
rs72551321
MyVariant Identifiers:
chr2:g.219678813G>T (hg19)
chr2:g.218814090G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.218814090G>T , CM000664.2:g.218814090G>T
GRCh38
NC_000002.11:g.219678813G>T , CM000664.1:g.219678813G>T
GRCh37
NC_000002.10:g.219387057G>T
NCBI36
NG_007959.1:g.37342G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000258415.9:c.1087G>T
MANE Select
ENSP00000258415.4:p.Glu363Ter
ENST00000258415.8:c.1087G>T
ENSP00000258415.4:p.Glu363Ter
ENST00000466602.1:n.1209G>T
ENST00000494263.5:n.1521G>T
NM_000784.3:c.1087G>T
NP_000775.1:p.Glu363Ter
XM_017003488.2:c.667G>T
XP_016858977.1:p.Glu223Ter
NM_000784.4:c.1087G>T
MANE Select
NP_000775.1:p.Glu363Ter
Search 100 bp 5'
Search 100 bp 3'