Canonical Allele Identifier: CA539840523
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1530077
ClinVar RCV Id: RCV002089533
dbSNP Id: rs1398037639
gnomAD v2: 2-219677634-G-A
gnomAD v4: 2-218812911-G-A
MyVariant Identifiers: chr2:g.219677634G>A (hg19) chr2:g.218812911G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812911G>A , CM000664.2:g.218812911G>A GRCh38
NC_000002.11:g.219677634G>A , CM000664.1:g.219677634G>A GRCh37
NC_000002.10:g.219385878G>A NCBI36
NG_007959.1:g.36163G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.845-13G>A MANE Select ENSP00000258415.4:n.845-13G>A
ENST00000258415.8:c.845-13G>A ENSP00000258415.4:n.845-13G>A
ENST00000411688.1:c.563-13G>A ENSP00000392671.1:n.563-13G>A
ENST00000445971.1:c.*306-13G>A ENSP00000404945.1:n.*306-13G>A
ENST00000466602.1:n.954G>A
ENST00000494263.5:n.1279-13G>A
NM_000784.3:c.845-13G>A NP_000775.1:n.845-13G>A
XM_017003488.2:c.425-13G>A XP_016858977.1:n.425-13G>A
NM_000784.4:c.845-13G>A MANE Select NP_000775.1:n.845-13G>A
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