Canonical Allele Identifier: CA2663168068

Gene: CYP27A1

Linked Data

• gnomAD v4: 2-218814192-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814192G>A , CM000664.2:g.218814192G>A	GRCh38
NC_000002.11:g.219678915G>A , CM000664.1:g.219678915G>A	GRCh37
NC_000002.10:g.219387159G>A	NCBI36
NG_007959.1:g.37444G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258415.9:c.1184+5G>A MANE Select	ENSP00000258415.4:n.1184+5G>A
ENST00000258415.8:c.1184+5G>A	ENSP00000258415.4:n.1184+5G>A
ENST00000494263.5:n.1623G>A
NM_000784.3:c.1184+5G>A	NP_000775.1:n.1184+5G>A
XM_017003488.2:c.764+5G>A	XP_016858977.1:n.764+5G>A
NM_000784.4:c.1184+5G>A MANE Select	NP_000775.1:n.1184+5G>A