Canonical Allele Identifier: CA1042482991

Gene: CYP27A1

Linked Data

• dbSNP Id: rs1439680333
• gnomAD v3: 2-218814237-G-C
• gnomAD v4: 2-218814237-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814237G>C , CM000664.2:g.218814237G>C	GRCh38
NC_000002.11:g.219678960G>C , CM000664.1:g.219678960G>C	GRCh37
NC_000002.10:g.219387204G>C	NCBI36
NG_007959.1:g.37489G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1184+50G>C MANE Select	ENSP00000258415.4:n.1184+50G>C
ENST00000258415.8:c.1184+50G>C	ENSP00000258415.4:n.1184+50G>C
ENST00000494263.5:n.1668G>C
NM_000784.3:c.1184+50G>C	NP_000775.1:n.1184+50G>C
XM_017003488.2:c.764+50G>C	XP_016858977.1:n.764+50G>C
NM_000784.4:c.1184+50G>C MANE Select	NP_000775.1:n.1184+50G>C