Canonical Allele Identifier: CA345152
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65825
ClinVar RCV Id: RCV000056065
dbSNP Id: rs200553205
MyVariant Identifiers: chr2:g.219677819G>C (hg19) chr2:g.218813096G>C (hg38)
PubMed: PMID:20301583 PMID:21073839
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Genomic Alleles

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

Transcript Alleles

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