×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA345162
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65834
ClinVar RCV Id:
RCV000056074
RCV000593893
dbSNP Id:
rs587778778
ExAC:
2:219678910 G / A
gnomAD v2:
2-219678910-G-A
gnomAD v3:
2-218814187-G-A
gnomAD v4:
2-218814187-G-A
MyVariant Identifiers:
chr2:g.219678910G>A (hg19)
chr2:g.218814187G>A (hg38)
PubMed:
PMID:8950197
PMID:9521761
PMID:9548584
PMID:20301583
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.218814187G>A , CM000664.2:g.218814187G>A
GRCh38
NC_000002.11:g.219678910G>A , CM000664.1:g.219678910G>A
GRCh37
NC_000002.10:g.219387154G>A
NCBI36
NG_007959.1:g.37439G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000258415.9:c.1184G>A
MANE Select
ENSP00000258415.4:p.Arg395His
ENST00000258415.8:c.1184G>A
ENSP00000258415.4:p.Arg395His
ENST00000494263.5:n.1618G>A
NM_000784.3:c.1184G>A
NP_000775.1:p.Arg395His
XM_017003488.2:c.764G>A
XP_016858977.1:p.Arg255His
NM_000784.4:c.1184G>A
MANE Select
NP_000775.1:p.Arg395His
Search 100 bp 5'
Search 100 bp 3'