Canonical Allele Identifier: CA1042479745

Gene: CYP27A1

Linked Data

• dbSNP Id: rs771064433
• gnomAD v3: 2-218782670-A-C
• gnomAD v4: 2-218782670-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782670A>C , CM000664.2:g.218782670A>C	GRCh38
NC_000002.11:g.219647393A>C , CM000664.1:g.219647393A>C	GRCh37
NC_000002.10:g.219355637A>C	NCBI36
NG_007959.1:g.5922A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.255+233A>C MANE Select	ENSP00000258415.4:n.255+233A>C
ENST00000258415.8:c.255+233A>C	ENSP00000258415.4:n.255+233A>C
ENST00000445971.1:c.255+233A>C	ENSP00000404945.1:n.255+233A>C
ENST00000466602.1:n.264+233A>C
ENST00000494263.5:n.689+233A>C
NM_000784.3:c.255+233A>C	NP_000775.1:n.255+233A>C
XM_017003488.2:c.26+233A>C	XP_016858977.1:n.26+233A>C
NM_000784.4:c.255+233A>C MANE Select	NP_000775.1:n.255+233A>C