Canonical Allele Identifier: CA340223

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 4267
• ClinVar RCV Id: RCV000004488 ; RCV000597433
• dbSNP Id: rs72551322
• ExAC: 2:219679439 C / G
• gnomAD v2: 2-219679439-C-G
• gnomAD v3: 2-218814716-C-G
• gnomAD v4: 2-218814716-C-G
• MyVariant Identifiers: chr2:g.219679439C>G (hg19) ; chr2:g.218814716C>G (hg38)
• PubMed: PMID:16278884 ; PMID:20301583

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814716C>G , CM000664.2:g.218814716C>G	GRCh38
NC_000002.11:g.219679439C>G , CM000664.1:g.219679439C>G	GRCh37
NC_000002.10:g.219387683C>G	NCBI36
NG_007959.1:g.37968C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1435C>G MANE Select	ENSP00000258415.4:p.Arg479Gly
ENST00000258415.8:c.1435C>G	ENSP00000258415.4:p.Arg479Gly
ENST00000494263.5:n.2147C>G
NM_000784.3:c.1435C>G	NP_000775.1:p.Arg479Gly
XM_017003488.2:c.1015C>G	XP_016858977.1:p.Arg339Gly
NM_000784.4:c.1435C>G MANE Select	NP_000775.1:p.Arg479Gly