Canonical Allele Identifier: CA1328916326

Gene: CYP27A1

Linked Data

• dbSNP Id: rs1943403596

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782621_218782627dup , CM000664.2:g.218782621_218782627dup	GRCh38
NC_000002.11:g.219647344_219647350dup , CM000664.1:g.219647344_219647350dup	GRCh37
NC_000002.10:g.219355588_219355594dup	NCBI36
NG_007959.1:g.5873_5879dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.255+184_255+190dup MANE Select	ENSP00000258415.4:n.255+184_255+190dup
ENST00000258415.8:c.255+184_255+190dup	ENSP00000258415.4:n.255+184_255+190dup
ENST00000445971.1:c.255+184_255+190dup	ENSP00000404945.1:n.255+184_255+190dup
ENST00000466602.1:n.264+184_264+190dup
ENST00000494263.5:n.689+184_689+190dup
NM_000784.3:c.255+184_255+190dup	NP_000775.1:n.255+184_255+190dup
XM_017003488.2:c.26+184_26+190dup	XP_016858977.1:n.26+184_26+190dup
NM_000784.4:c.255+184_255+190dup MANE Select	NP_000775.1:n.255+184_255+190dup