Canonical Allele Identifier: CA2112924

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 379475
• ClinVar RCV Id: RCV000432466 ; RCV001833525 ; RCV004022314
• dbSNP Id: rs111570247
• ExAC: 2:219679632 A / C
• gnomAD v2: 2-219679632-A-C
• MyVariant Identifiers: chr2:g.219679632A>C (hg19) ; chr2:g.218814909A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814909A>C , CM000664.2:g.218814909A>C	GRCh38
NC_000002.11:g.219679632A>C , CM000664.1:g.219679632A>C	GRCh37
NC_000002.10:g.219387876A>C	NCBI36
NG_007959.1:g.38161A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1477-2A>C MANE Select	ENSP00000258415.4:n.1477-2A>C
ENST00000258415.8:c.1477-2A>C	ENSP00000258415.4:n.1477-2A>C
ENST00000494263.5:n.2189-2A>C
NM_000784.3:c.1477-2A>C	NP_000775.1:n.1477-2A>C
XM_017003488.2:c.1057-2A>C	XP_016858977.1:n.1057-2A>C
NM_000784.4:c.1477-2A>C MANE Select	NP_000775.1:n.1477-2A>C