Canonical Allele Identifier: CA2112510
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 500828
ClinVar RCV Id: RCV000591741 RCV001054067 RCV001252221 RCV004024799
dbSNP Id: rs371449777
ExAC: 2:219646988 A / C
gnomAD v2: 2-219646988-A-C
gnomAD v3: 2-218782265-A-C
gnomAD v4: 2-218782265-A-C
MyVariant Identifiers: chr2:g.219646988A>C (hg19) chr2:g.218782265A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782265A>C , CM000664.2:g.218782265A>C GRCh38
NC_000002.11:g.219646988A>C , CM000664.1:g.219646988A>C GRCh37
NC_000002.10:g.219355232A>C NCBI36
NG_007959.1:g.5517A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.83A>C MANE Select ENSP00000258415.4:p.Lys28Thr
ENST00000258415.8:c.83A>C ENSP00000258415.4:p.Lys28Thr
ENST00000445971.1:c.83A>C ENSP00000404945.1:p.Lys28Thr
ENST00000466602.1:n.92A>C
ENST00000494263.5:n.517A>C
NM_000784.3:c.83A>C NP_000775.1:p.Lys28Thr
XM_017003488.2:c.-147A>C XP_016858977.1:n.-147A>C
NM_000784.4:c.83A>C MANE Select NP_000775.1:p.Lys28Thr
Search 100 bp 5'
Search 100 bp 3'