Canonical Allele Identifier: CA2112665

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 286323
• ClinVar RCV Id: RCV000396852 ; RCV001078696 ; RCV002356386 ; RCV003897621
• dbSNP Id: rs148132118
• ExAC: 2:219677107 G / A
• gnomAD v2: 2-219677107-G-A
• gnomAD v3: 2-218812384-G-A
• gnomAD v4: 2-218812384-G-A
• MyVariant Identifiers: chr2:g.219677107G>A (hg19) ; chr2:g.218812384G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812384G>A , CM000664.2:g.218812384G>A	GRCh38
NC_000002.11:g.219677107G>A , CM000664.1:g.219677107G>A	GRCh37
NC_000002.10:g.219385351G>A	NCBI36
NG_007959.1:g.35636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.609G>A MANE Select	ENSP00000258415.4:p.Ser203=
ENST00000258415.8:c.609G>A	ENSP00000258415.4:p.Ser203=
ENST00000411688.1:c.327G>A	ENSP00000392671.1:p.Ser109=
ENST00000445971.1:c.*70G>A	ENSP00000404945.1:n.*70G>A
ENST00000466602.1:n.427G>A
ENST00000494263.5:n.1043G>A
NM_000784.3:c.609G>A	NP_000775.1:p.Ser203=
XM_017003488.2:c.189G>A	XP_016858977.1:p.Ser63=
NM_000784.4:c.609G>A MANE Select	NP_000775.1:p.Ser203=