Canonical Allele Identifier: CA65813743
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs923201483
gnomAD v4: 2-218782312-C-A
MyVariant Identifiers: chr2:g.219647035C>A (hg19) chr2:g.218782312C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782312C>A , CM000664.2:g.218782312C>A GRCh38
NC_000002.11:g.219647035C>A , CM000664.1:g.219647035C>A GRCh37
NC_000002.10:g.219355279C>A NCBI36
NG_007959.1:g.5564C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.130C>A MANE Select ENSP00000258415.4:p.Pro44Thr
ENST00000258415.8:c.130C>A ENSP00000258415.4:p.Pro44Thr
ENST00000445971.1:c.130C>A ENSP00000404945.1:p.Pro44Thr
ENST00000466602.1:n.139C>A
ENST00000494263.5:n.564C>A
NM_000784.3:c.130C>A NP_000775.1:p.Pro44Thr
XM_017003488.2:c.-100C>A XP_016858977.1:n.-100C>A
NM_000784.4:c.130C>A MANE Select NP_000775.1:p.Pro44Thr
Search 100 bp 5'
Search 100 bp 3'