Canonical Allele Identifier: CA350592814
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1456553
ClinVar RCV Id: RCV001946909
dbSNP Id: rs587778777
MyVariant Identifiers: chr2:g.219678911G>C (hg19) chr2:g.218814188G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814188G>C , CM000664.2:g.218814188G>C GRCh38
NC_000002.11:g.219678911G>C , CM000664.1:g.219678911G>C GRCh37
NC_000002.10:g.219387155G>C NCBI36
NG_007959.1:g.37440G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1184+1G>C MANE Select ENSP00000258415.4:n.1184+1G>C
ENST00000258415.8:c.1184+1G>C ENSP00000258415.4:n.1184+1G>C
ENST00000494263.5:n.1619G>C
NM_000784.3:c.1184+1G>C NP_000775.1:n.1184+1G>C
XM_017003488.2:c.764+1G>C XP_016858977.1:n.764+1G>C
NM_000784.4:c.1184+1G>C MANE Select NP_000775.1:n.1184+1G>C
Search 100 bp 5'
Search 100 bp 3'