Canonical Allele Identifier: CA2754297257

Gene: CYP27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814291G>C , CM000664.2:g.218814291G>C	GRCh38
NC_000002.11:g.219679014G>C , CM000664.1:g.219679014G>C	GRCh37
NC_000002.10:g.219387258G>C	NCBI36
NG_007959.1:g.37543G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1185-89G>C MANE Select	ENSP00000258415.4:n.1185-89G>C
ENST00000258415.8:c.1185-89G>C	ENSP00000258415.4:n.1185-89G>C
ENST00000494263.5:n.1722G>C
NM_000784.3:c.1185-89G>C	NP_000775.1:n.1185-89G>C
XM_017003488.2:c.765-89G>C	XP_016858977.1:n.765-89G>C
NM_000784.4:c.1185-89G>C MANE Select	NP_000775.1:n.1185-89G>C