Canonical Allele Identifier: CA2112624

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 284176
• ClinVar RCV Id: RCV000299535 ; RCV001138491 ; RCV001252458 ; RCV002347996 ; RCV003417892
• dbSNP Id: rs148417330
• ExAC: 2:219676989 G / A
• gnomAD v2: 2-219676989-G-A
• gnomAD v3: 2-218812266-G-A
• gnomAD v4: 2-218812266-G-A
• MyVariant Identifiers: chr2:g.219676989G>A (hg19) ; chr2:g.218812266G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812266G>A , CM000664.2:g.218812266G>A	GRCh38
NC_000002.11:g.219676989G>A , CM000664.1:g.219676989G>A	GRCh37
NC_000002.10:g.219385233G>A	NCBI36
NG_007959.1:g.35518G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.491G>A MANE Select	ENSP00000258415.4:p.Arg164Gln
ENST00000258415.8:c.491G>A	ENSP00000258415.4:p.Arg164Gln
ENST00000411688.1:c.209G>A	ENSP00000392671.1:p.Arg70Gln
ENST00000445971.1:c.300G>A	ENSP00000404945.1:p.Ala100=
ENST00000466602.1:n.309G>A
ENST00000494263.5:n.925G>A
NM_000784.3:c.491G>A	NP_000775.1:p.Arg164Gln
XM_017003488.2:c.71G>A	XP_016858977.1:p.Arg24Gln
NM_000784.4:c.491G>A MANE Select	NP_000775.1:p.Arg164Gln