Canonical Allele Identifier: CA1328929632

Gene: CYP27A1

Linked Data

• dbSNP Id: rs1943758272
• gnomAD v4: 2-218814238-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814238A>G , CM000664.2:g.218814238A>G	GRCh38
NC_000002.11:g.219678961A>G , CM000664.1:g.219678961A>G	GRCh37
NC_000002.10:g.219387205A>G	NCBI36
NG_007959.1:g.37490A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1184+51A>G MANE Select	ENSP00000258415.4:n.1184+51A>G
ENST00000258415.8:c.1184+51A>G	ENSP00000258415.4:n.1184+51A>G
ENST00000494263.5:n.1669A>G
NM_000784.3:c.1184+51A>G	NP_000775.1:n.1184+51A>G
XM_017003488.2:c.764+51A>G	XP_016858977.1:n.764+51A>G
NM_000784.4:c.1184+51A>G MANE Select	NP_000775.1:n.1184+51A>G