Canonical Allele Identifier: CA1328916368

Gene: CYP27A1

Linked Data

• dbSNP Id: rs1943404698
• gnomAD v3: 2-218782694-T-TA
• gnomAD v4: 2-218782694-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218782695dup , CM000664.2:g.218782695dup	GRCh38
NC_000002.11:g.219647418dup , CM000664.1:g.219647418dup	GRCh37
NC_000002.10:g.219355662dup	NCBI36
NG_007959.1:g.5947dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.255+258dup MANE Select	ENSP00000258415.4:n.255+258dup
ENST00000258415.8:c.255+258dup	ENSP00000258415.4:n.255+258dup
ENST00000445971.1:c.255+258dup	ENSP00000404945.1:n.255+258dup
ENST00000466602.1:n.264+258dup
ENST00000494263.5:n.689+258dup
NM_000784.3:c.255+258dup	NP_000775.1:n.255+258dup
XM_017003488.2:c.26+258dup	XP_016858977.1:n.26+258dup
NM_000784.4:c.255+258dup MANE Select	NP_000775.1:n.255+258dup