Canonical Allele Identifier: CA2573135318

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 1572816
• ClinVar RCV Id: RCV002220039
• dbSNP Id: rs1575206765
• gnomAD v4: 2-218814194-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814194C>T , CM000664.2:g.218814194C>T	GRCh38
NC_000002.11:g.219678917C>T , CM000664.1:g.219678917C>T	GRCh37
NC_000002.10:g.219387161C>T	NCBI36
NG_007959.1:g.37446C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258415.9:c.1184+7C>T MANE Select	ENSP00000258415.4:n.1184+7C>T
ENST00000258415.8:c.1184+7C>T	ENSP00000258415.4:n.1184+7C>T
ENST00000494263.5:n.1625C>T
NM_000784.3:c.1184+7C>T	NP_000775.1:n.1184+7C>T
XM_017003488.2:c.764+7C>T	XP_016858977.1:n.764+7C>T
NM_000784.4:c.1184+7C>T MANE Select	NP_000775.1:n.1184+7C>T