Canonical Allele Identifier: CA1328916373

Gene: CYP27A1

Linked Data

• dbSNP Id: rs1943406019

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782708G>A , CM000664.2:g.218782708G>A	GRCh38
NC_000002.11:g.219647431G>A , CM000664.1:g.219647431G>A	GRCh37
NC_000002.10:g.219355675G>A	NCBI36
NG_007959.1:g.5960G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.255+271G>A MANE Select	ENSP00000258415.4:n.255+271G>A
ENST00000258415.8:c.255+271G>A	ENSP00000258415.4:n.255+271G>A
ENST00000445971.1:c.255+271G>A	ENSP00000404945.1:n.255+271G>A
ENST00000466602.1:n.264+271G>A
ENST00000494263.5:n.689+271G>A
NM_000784.3:c.255+271G>A	NP_000775.1:n.255+271G>A
XM_017003488.2:c.26+271G>A	XP_016858977.1:n.26+271G>A
NM_000784.4:c.255+271G>A MANE Select	NP_000775.1:n.255+271G>A