Canonical Allele Identifier: CA2577246426

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812537C>T , CM000664.2:g.218812537C>T	GRCh38
NC_000002.11:g.219677260C>T , CM000664.1:g.219677260C>T	GRCh37
NC_000002.10:g.219385504C>T	NCBI36
NG_007959.1:g.35789C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258415.9:c.647-15C>T MANE Select	ENSP00000258415.4:n.647-15C>T
ENST00000258415.8:c.647-15C>T	ENSP00000258415.4:n.647-15C>T
ENST00000411688.1:c.365-15C>T	ENSP00000392671.1:n.365-15C>T
ENST00000445971.1:c.*108-15C>T	ENSP00000404945.1:n.*108-15C>T
ENST00000466602.1:n.580C>T
ENST00000494263.5:n.1081-15C>T
NM_000784.3:c.647-15C>T	NP_000775.1:n.647-15C>T
XM_017003488.2:c.227-15C>T	XP_016858977.1:n.227-15C>T
NM_000784.4:c.647-15C>T MANE Select	NP_000775.1:n.647-15C>T