Canonical Allele Identifier: CA350591769
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1513707
ClinVar RCV Id: RCV002026305 RCV002425421
dbSNP Id: rs139426361
MyVariant Identifiers: chr2:g.219678812C>A (hg19) chr2:g.218814089C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814089C>A , CM000664.2:g.218814089C>A GRCh38
NC_000002.11:g.219678812C>A , CM000664.1:g.219678812C>A GRCh37
NC_000002.10:g.219387056C>A NCBI36
NG_007959.1:g.37341C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1086C>A MANE Select ENSP00000258415.4:p.His362Gln
ENST00000258415.8:c.1086C>A ENSP00000258415.4:p.His362Gln
ENST00000466602.1:n.1208C>A
ENST00000494263.5:n.1520C>A
NM_000784.3:c.1086C>A NP_000775.1:p.His362Gln
XM_017003488.2:c.666C>A XP_016858977.1:p.His222Gln
NM_000784.4:c.1086C>A MANE Select NP_000775.1:p.His362Gln
Search 100 bp 5'
Search 100 bp 3'