Canonical Allele Identifier: CA2112698

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812608G>A , CM000664.2:g.218812608G>A	GRCh38
NC_000002.11:g.219677331G>A , CM000664.1:g.219677331G>A	GRCh37
NC_000002.10:g.219385575G>A	NCBI36
NG_007959.1:g.35860G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000784.4:c.703G>A MANE Select	NP_000775.1:p.Glu235Lys
ENST00000258415.9:c.703G>A MANE Select	ENSP00000258415.4:p.Glu235Lys
NM_000784.3:c.703G>A	NP_000775.1:p.Glu235Lys
ENST00000258415.8:c.703G>A	ENSP00000258415.4:p.Glu235Lys
ENST00000411688.1:c.421G>A	ENSP00000392671.1:p.Glu141Lys
ENST00000445971.1:c.*164G>A	ENSP00000404945.1:n.*164G>A
ENST00000466602.1:n.651G>A
ENST00000494263.5:n.1137G>A
XM_017003488.2:c.283G>A	XP_016858977.1:p.Glu95Lys