Canonical Allele Identifier: CA2663167272

Gene: CYP27A1

Linked Data

• gnomAD v4: 2-218812883-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812883C>G , CM000664.2:g.218812883C>G	GRCh38
NC_000002.11:g.219677606C>G , CM000664.1:g.219677606C>G	GRCh37
NC_000002.10:g.219385850C>G	NCBI36
NG_007959.1:g.36135C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.845-41C>G MANE Select	ENSP00000258415.4:n.845-41C>G
ENST00000258415.8:c.845-41C>G	ENSP00000258415.4:n.845-41C>G
ENST00000411688.1:c.563-41C>G	ENSP00000392671.1:n.563-41C>G
ENST00000445971.1:c.*306-41C>G	ENSP00000404945.1:n.*306-41C>G
ENST00000466602.1:n.926C>G
ENST00000494263.5:n.1279-41C>G
NM_000784.3:c.845-41C>G	NP_000775.1:n.845-41C>G
XM_017003488.2:c.425-41C>G	XP_016858977.1:n.425-41C>G
NM_000784.4:c.845-41C>G MANE Select	NP_000775.1:n.845-41C>G