Canonical Allele Identifier: CA1328916303

Gene: CYP27A1

Linked Data

• dbSNP Id: rs1448337337
• gnomAD v4: 2-218782554-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782554C>G , CM000664.2:g.218782554C>G	GRCh38
NC_000002.11:g.219647277C>G , CM000664.1:g.219647277C>G	GRCh37
NC_000002.10:g.219355521C>G	NCBI36
NG_007959.1:g.5806C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.255+117C>G MANE Select	ENSP00000258415.4:n.255+117C>G
ENST00000258415.8:c.255+117C>G	ENSP00000258415.4:n.255+117C>G
ENST00000445971.1:c.255+117C>G	ENSP00000404945.1:n.255+117C>G
ENST00000466602.1:n.264+117C>G
ENST00000494263.5:n.689+117C>G
NM_000784.3:c.255+117C>G	NP_000775.1:n.255+117C>G
XM_017003488.2:c.26+117C>G	XP_016858977.1:n.26+117C>G
NM_000784.4:c.255+117C>G MANE Select	NP_000775.1:n.255+117C>G