Canonical Allele Identifier: CA1328928813

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812553T= , CM000664.2:g.218812553T=	GRCh38
NC_000002.11:g.219677276T= , CM000664.1:g.219677276T=	GRCh37
NC_000002.10:g.219385520T=	NCBI36
NG_007959.1:g.35805T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.648T= MANE Select	ENSP00000258415.4:p.Ala216=
ENST00000258415.8:c.648T=	ENSP00000258415.4:p.Ala216=
ENST00000411688.1:c.366T=	ENSP00000392671.1:p.Ala122=
ENST00000445971.1:c.*109T=	ENSP00000404945.1:n.*109T=
ENST00000466602.1:n.596T=
ENST00000494263.5:n.1082T=
NM_000784.3:c.648T=	NP_000775.1:p.Ala216=
XM_017003488.2:c.228T=	XP_016858977.1:p.Ala76=
NM_000784.4:c.648T= MANE Select	NP_000775.1:p.Ala216=