Canonical Allele Identifier: CA2112787

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 586207
• ClinVar RCV Id: RCV000712496 ; RCV001451694 ; RCV002386283
• dbSNP Id: rs771343931
• ExAC: 2:219678755 G / A
• gnomAD v2: 2-219678755-G-A
• gnomAD v3: 2-218814032-G-A
• gnomAD v4: 2-218814032-G-A
• MyVariant Identifiers: chr2:g.219678755G>A (hg19) ; chr2:g.218814032G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814032G>A , CM000664.2:g.218814032G>A	GRCh38
NC_000002.11:g.219678755G>A , CM000664.1:g.219678755G>A	GRCh37
NC_000002.10:g.219386999G>A	NCBI36
NG_007959.1:g.37284G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1029G>A MANE Select	ENSP00000258415.4:p.Thr343=
ENST00000258415.8:c.1029G>A	ENSP00000258415.4:p.Thr343=
ENST00000445971.1:c.*490G>A	ENSP00000404945.1:n.*490G>A
ENST00000466602.1:n.1151G>A
ENST00000494263.5:n.1463G>A
NM_000784.3:c.1029G>A	NP_000775.1:p.Thr343=
XM_017003488.2:c.609G>A	XP_016858977.1:p.Thr203=
NM_000784.4:c.1029G>A MANE Select	NP_000775.1:p.Thr343=