Canonical Allele Identifier: CA2754297258

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814320del , CM000664.2:g.218814320del	GRCh38
NC_000002.11:g.219679043del , CM000664.1:g.219679043del	GRCh37
NC_000002.10:g.219387287del	NCBI36
NG_007959.1:g.37572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1185-60del MANE Select	ENSP00000258415.4:n.1185-60del
ENST00000258415.8:c.1185-60del	ENSP00000258415.4:n.1185-60del
ENST00000494263.5:n.1751del
NM_000784.3:c.1185-60del	NP_000775.1:n.1185-60del
XM_017003488.2:c.765-60del	XP_016858977.1:n.765-60del
NM_000784.4:c.1185-60del MANE Select	NP_000775.1:n.1185-60del