Canonical Allele Identifier: CA2112895

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 498030
• ClinVar RCV Id: RCV000596853 ; RCV001243512 ; RCV003420030
• dbSNP Id: rs199638075
• ExAC: 2:219679440 G / A
• gnomAD v2: 2-219679440-G-A
• gnomAD v3: 2-218814717-G-A
• gnomAD v4: 2-218814717-G-A
• COSMIC: COSM5566186
• MyVariant Identifiers: chr2:g.219679440G>A (hg19) ; chr2:g.218814717G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814717G>A , CM000664.2:g.218814717G>A	GRCh38
NC_000002.11:g.219679440G>A , CM000664.1:g.219679440G>A	GRCh37
NC_000002.10:g.219387684G>A	NCBI36
NG_007959.1:g.37969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1436G>A MANE Select	ENSP00000258415.4:p.Arg479His
ENST00000258415.8:c.1436G>A	ENSP00000258415.4:p.Arg479His
ENST00000494263.5:n.2148G>A
NM_000784.3:c.1436G>A	NP_000775.1:p.Arg479His
XM_017003488.2:c.1016G>A	XP_016858977.1:p.Arg339His
NM_000784.4:c.1436G>A MANE Select	NP_000775.1:p.Arg479His