Canonical Allele Identifier: CA2112807

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 291259
• ClinVar RCV Id: RCV000368208 ; RCV001138169 ; RCV002436128
• dbSNP Id: rs369969903
• ExAC: 2:219678840 G / A
• gnomAD v2: 2-219678840-G-A
• gnomAD v3: 2-218814117-G-A
• gnomAD v4: 2-218814117-G-A
• COSMIC: COSM1016507
• MyVariant Identifiers: chr2:g.219678840G>A (hg19) ; chr2:g.218814117G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814117G>A , CM000664.2:g.218814117G>A	GRCh38
NC_000002.11:g.219678840G>A , CM000664.1:g.219678840G>A	GRCh37
NC_000002.10:g.219387084G>A	NCBI36
NG_007959.1:g.37369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1114G>A MANE Select	ENSP00000258415.4:p.Gly372Arg
ENST00000258415.8:c.1114G>A	ENSP00000258415.4:p.Gly372Arg
ENST00000494263.5:n.1548G>A
NM_000784.3:c.1114G>A	NP_000775.1:p.Gly372Arg
XM_017003488.2:c.694G>A	XP_016858977.1:p.Gly232Arg
NM_000784.4:c.1114G>A MANE Select	NP_000775.1:p.Gly372Arg