Canonical Allele Identifier: CA2112656

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 288473
• ClinVar RCV Id: RCV000260963 ; RCV000363976 ; RCV002244740 ; RCV003910011
• dbSNP Id: rs181649030
• ExAC: 2:219677076 G / A
• gnomAD v2: 2-219677076-G-A
• gnomAD v3: 2-218812353-G-A
• gnomAD v4: 2-218812353-G-A
• MyVariant Identifiers: chr2:g.219677076G>A (hg19) ; chr2:g.218812353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812353G>A , CM000664.2:g.218812353G>A	GRCh38
NC_000002.11:g.219677076G>A , CM000664.1:g.219677076G>A	GRCh37
NC_000002.10:g.219385320G>A	NCBI36
NG_007959.1:g.35605G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.578G>A MANE Select	ENSP00000258415.4:p.Arg193Gln
ENST00000258415.8:c.578G>A	ENSP00000258415.4:p.Arg193Gln
ENST00000411688.1:c.296G>A	ENSP00000392671.1:p.Arg99Gln
ENST00000445971.1:c.*39G>A	ENSP00000404945.1:n.*39G>A
ENST00000466602.1:n.396G>A
ENST00000494263.5:n.1012G>A
NM_000784.3:c.578G>A	NP_000775.1:p.Arg193Gln
XM_017003488.2:c.158G>A	XP_016858977.1:p.Arg53Gln
NM_000784.4:c.578G>A MANE Select	NP_000775.1:p.Arg193Gln