Canonical Allele Identifier: CA65833455
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs371379653
gnomAD v3: 2-218812802-C-A
gnomAD v4: 2-218812802-C-A
MyVariant Identifiers: chr2:g.219677525C>A (hg19) chr2:g.218812802C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812802C>A , CM000664.2:g.218812802C>A GRCh38
NC_000002.11:g.219677525C>A , CM000664.1:g.219677525C>A GRCh37
NC_000002.10:g.219385769C>A NCBI36
NG_007959.1:g.36054C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.844+53C>A MANE Select ENSP00000258415.4:n.844+53C>A
ENST00000258415.8:c.844+53C>A ENSP00000258415.4:n.844+53C>A
ENST00000411688.1:c.562+53C>A ENSP00000392671.1:n.562+53C>A
ENST00000445971.1:c.*305+53C>A ENSP00000404945.1:n.*305+53C>A
ENST00000466602.1:n.845C>A
ENST00000494263.5:n.1278+53C>A
NM_000784.3:c.844+53C>A NP_000775.1:n.844+53C>A
XM_017003488.2:c.424+53C>A XP_016858977.1:n.424+53C>A
NM_000784.4:c.844+53C>A MANE Select NP_000775.1:n.844+53C>A
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