Canonical Allele Identifier: CA764918175

Gene: CYP27A1

Linked Data

• dbSNP Id: rs1177154383
• gnomAD v3: 2-218813890-A-G
• gnomAD v4: 2-218813890-A-G
• MyVariant Identifiers: chr2:g.219678613A>G (hg19) ; chr2:g.218813890A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218813890A>G , CM000664.2:g.218813890A>G	GRCh38
NC_000002.11:g.219678613A>G , CM000664.1:g.219678613A>G	GRCh37
NC_000002.10:g.219386857A>G	NCBI36
NG_007959.1:g.37142A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1018-131A>G MANE Select	ENSP00000258415.4:n.1018-131A>G
ENST00000258415.8:c.1018-131A>G	ENSP00000258415.4:n.1018-131A>G
ENST00000445971.1:c.*479-131A>G	ENSP00000404945.1:n.*479-131A>G
ENST00000466602.1:n.1140-131A>G
ENST00000494263.5:n.1452-131A>G
NM_000784.3:c.1018-131A>G	NP_000775.1:n.1018-131A>G
XM_017003488.2:c.598-131A>G	XP_016858977.1:n.598-131A>G
NM_000784.4:c.1018-131A>G MANE Select	NP_000775.1:n.1018-131A>G