Canonical Allele Identifier: CA2112770

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 284271
• ClinVar RCV Id: RCV000397921 ; RCV000665225 ; RCV002282102
• dbSNP Id: rs200553205
• ExAC: 2:219677819 G / A
• gnomAD v2: 2-219677819-G-A
• gnomAD v3: 2-218813096-G-A
• gnomAD v4: 2-218813096-G-A
• MyVariant Identifiers: chr2:g.219677819G>A (hg19) ; chr2:g.218813096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218813096G>A , CM000664.2:g.218813096G>A	GRCh38
NC_000002.11:g.219677819G>A , CM000664.1:g.219677819G>A	GRCh37
NC_000002.10:g.219386063G>A	NCBI36
NG_007959.1:g.36348G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1017G>A MANE Select	ENSP00000258415.4:p.Thr339=
ENST00000258415.8:c.1017G>A	ENSP00000258415.4:p.Thr339=
ENST00000445971.1:c.*478G>A	ENSP00000404945.1:n.*478G>A
ENST00000466602.1:n.1139G>A
ENST00000494263.5:n.1451G>A
NM_000784.3:c.1017G>A	NP_000775.1:p.Thr339=
XM_017003488.2:c.597G>A	XP_016858977.1:p.Thr199=
NM_000784.4:c.1017G>A MANE Select	NP_000775.1:p.Thr339=