Canonical Allele Identifier: CA345181

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 65851
• ClinVar RCV Id: RCV000056091 ; RCV001785469
• dbSNP Id: rs200883871
• ExAC: 2:219679419 G / C
• gnomAD v2: 2-219679419-G-C
• gnomAD v3: 2-218814696-G-C
• gnomAD v4: 2-218814696-G-C
• MyVariant Identifiers: chr2:g.219679419G>C (hg19) ; chr2:g.218814696G>C (hg38)
• PubMed: PMID:10775536 ; PMID:20301583

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814696G>C , CM000664.2:g.218814696G>C	GRCh38
NC_000002.11:g.219679419G>C , CM000664.1:g.219679419G>C	GRCh37
NC_000002.10:g.219387663G>C	NCBI36
NG_007959.1:g.37948G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1415G>C MANE Select	ENSP00000258415.4:p.Gly472Ala
ENST00000258415.8:c.1415G>C	ENSP00000258415.4:p.Gly472Ala
ENST00000494263.5:n.2127G>C
NM_000784.3:c.1415G>C	NP_000775.1:p.Gly472Ala
XM_017003488.2:c.995G>C	XP_016858977.1:p.Gly332Ala
NM_000784.4:c.1415G>C MANE Select	NP_000775.1:p.Gly472Ala