Canonical Allele Identifier: CA2112694
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2068803
ClinVar RCV Id: RCV002954384
dbSNP Id: rs755452918
ExAC: 2:219677320 G / A
gnomAD v2: 2-219677320-G-A
gnomAD v3: 2-218812597-G-A
gnomAD v4: 2-218812597-G-A
MyVariant Identifiers: chr2:g.219677320G>A (hg19) chr2:g.218812597G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812597G>A , CM000664.2:g.218812597G>A GRCh38
NC_000002.11:g.219677320G>A , CM000664.1:g.219677320G>A GRCh37
NC_000002.10:g.219385564G>A NCBI36
NG_007959.1:g.35849G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.692G>A MANE Select ENSP00000258415.4:p.Arg231Gln
ENST00000258415.8:c.692G>A ENSP00000258415.4:p.Arg231Gln
ENST00000411688.1:c.410G>A ENSP00000392671.1:p.Arg137Gln
ENST00000445971.1:c.*153G>A ENSP00000404945.1:n.*153G>A
ENST00000466602.1:n.640G>A
ENST00000494263.5:n.1126G>A
NM_000784.3:c.692G>A NP_000775.1:p.Arg231Gln
XM_017003488.2:c.272G>A XP_016858977.1:p.Arg91Gln
NM_000784.4:c.692G>A MANE Select NP_000775.1:p.Arg231Gln
Search 100 bp 5'
Search 100 bp 3'