Canonical Allele Identifier: CA2663167784

Gene: CYP27A1

Linked Data

• gnomAD v4: 2-218813892-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218813898dup , CM000664.2:g.218813898dup	GRCh38
NC_000002.11:g.219678621dup , CM000664.1:g.219678621dup	GRCh37
NC_000002.10:g.219386865dup	NCBI36
NG_007959.1:g.37150dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1018-123dup MANE Select	ENSP00000258415.4:n.1018-123dup
ENST00000258415.8:c.1018-123dup	ENSP00000258415.4:n.1018-123dup
ENST00000445971.1:c.*479-123dup	ENSP00000404945.1:n.*479-123dup
ENST00000466602.1:n.1140-123dup
ENST00000494263.5:n.1452-123dup
NM_000784.3:c.1018-123dup	NP_000775.1:n.1018-123dup
XM_017003488.2:c.598-123dup	XP_016858977.1:n.598-123dup
NM_000784.4:c.1018-123dup MANE Select	NP_000775.1:n.1018-123dup