Canonical Allele Identifier: CA2112770
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 284271
ClinVar RCV Id: RCV000397921 RCV000665225 RCV002282102
dbSNP Id: rs200553205
ExAC: 2:219677819 G / A
gnomAD v2: 2-219677819-G-A
gnomAD v3: 2-218813096-G-A
gnomAD v4: 2-218813096-G-A
MyVariant Identifiers: chr2:g.219677819G>A (hg19) chr2:g.218813096G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218813096G>A , CM000664.2:g.218813096G>A GRCh38
NC_000002.11:g.219677819G>A , CM000664.1:g.219677819G>A GRCh37
NC_000002.10:g.219386063G>A NCBI36
NG_007959.1:g.36348G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1017G>A MANE Select ENSP00000258415.4:p.Thr339=
ENST00000258415.8:c.1017G>A ENSP00000258415.4:p.Thr339=
ENST00000445971.1:c.*478G>A ENSP00000404945.1:n.*478G>A
ENST00000466602.1:n.1139G>A
ENST00000494263.5:n.1451G>A
NM_000784.3:c.1017G>A NP_000775.1:p.Thr339=
XM_017003488.2:c.597G>A XP_016858977.1:p.Thr199=
NM_000784.4:c.1017G>A MANE Select NP_000775.1:p.Thr339=
Search 100 bp 5'
Search 100 bp 3'