Canonical Allele Identifier: CA345195

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 65866
• ClinVar RCV Id: RCV000056111 ; RCV003480049
• dbSNP Id: rs376230356
• ExAC: 2:219674424 G / A
• gnomAD v2: 2-219674424-G-A
• gnomAD v3: 2-218809701-G-A
• gnomAD v4: 2-218809701-G-A
• MyVariant Identifiers: chr2:g.219674424G>A (hg19) ; chr2:g.218809701G>A (hg38)
• PubMed: PMID:8730343 ; PMID:20301583

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218809701G>A , CM000664.2:g.218809701G>A	GRCh38
NC_000002.11:g.219674424G>A , CM000664.1:g.219674424G>A	GRCh37
NC_000002.10:g.219382668G>A	NCBI36
NG_007959.1:g.32953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.380G>A MANE Select	ENSP00000258415.4:p.Arg127Gln
ENST00000258415.8:c.380G>A	ENSP00000258415.4:p.Arg127Gln
ENST00000411688.1:c.98G>A	ENSP00000392671.1:p.Arg33Gln
ENST00000445971.1:c.256-2521G>A	ENSP00000404945.1:n.256-2521G>A
ENST00000466602.1:n.265-2521G>A
ENST00000494263.5:n.814G>A
NM_000784.3:c.380G>A	NP_000775.1:p.Arg127Gln
XM_017003488.2:c.27-2521G>A	XP_016858977.1:n.27-2521G>A
NM_000784.4:c.380G>A MANE Select	NP_000775.1:p.Arg127Gln