Canonical Allele Identifier: CA2577246478

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814326C>T , CM000664.2:g.218814326C>T	GRCh38
NC_000002.11:g.219679049C>T , CM000664.1:g.219679049C>T	GRCh37
NC_000002.10:g.219387293C>T	NCBI36
NG_007959.1:g.37578C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1185-54C>T MANE Select	ENSP00000258415.4:n.1185-54C>T
ENST00000258415.8:c.1185-54C>T	ENSP00000258415.4:n.1185-54C>T
ENST00000494263.5:n.1757C>T
NM_000784.3:c.1185-54C>T	NP_000775.1:n.1185-54C>T
XM_017003488.2:c.765-54C>T	XP_016858977.1:n.765-54C>T
NM_000784.4:c.1185-54C>T MANE Select	NP_000775.1:n.1185-54C>T