Canonical Allele Identifier: CA2112544

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 2998509
• ClinVar RCV Id: RCV003859156
• dbSNP Id: rs767761739
• ExAC: 2:219647174 G / A
• gnomAD v2: 2-219647174-G-A
• gnomAD v3: 2-218782451-G-A
• gnomAD v4: 2-218782451-G-A
• MyVariant Identifiers: chr2:g.219647174G>A (hg19) ; chr2:g.218782451G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782451G>A , CM000664.2:g.218782451G>A	GRCh38
NC_000002.11:g.219647174G>A , CM000664.1:g.219647174G>A	GRCh37
NC_000002.10:g.219355418G>A	NCBI36
NG_007959.1:g.5703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.255+14G>A MANE Select	ENSP00000258415.4:n.255+14G>A
ENST00000258415.8:c.255+14G>A	ENSP00000258415.4:n.255+14G>A
ENST00000445971.1:c.255+14G>A	ENSP00000404945.1:n.255+14G>A
ENST00000466602.1:n.264+14G>A
ENST00000494263.5:n.689+14G>A
NM_000784.3:c.255+14G>A	NP_000775.1:n.255+14G>A
XM_017003488.2:c.26+14G>A	XP_016858977.1:n.26+14G>A
NM_000784.4:c.255+14G>A MANE Select	NP_000775.1:n.255+14G>A