Canonical Allele Identifier: CA350591587
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219678788C>A (hg19) chr2:g.218814065C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814065C>A , CM000664.2:g.218814065C>A GRCh38
NC_000002.11:g.219678788C>A , CM000664.1:g.219678788C>A GRCh37
NC_000002.10:g.219387032C>A NCBI36
NG_007959.1:g.37317C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1062C>A MANE Select ENSP00000258415.4:p.Asp354Glu
ENST00000258415.8:c.1062C>A ENSP00000258415.4:p.Asp354Glu
ENST00000445971.1:c.*523C>A ENSP00000404945.1:n.*523C>A
ENST00000466602.1:n.1184C>A
ENST00000494263.5:n.1496C>A
NM_000784.3:c.1062C>A NP_000775.1:p.Asp354Glu
XM_017003488.2:c.642C>A XP_016858977.1:p.Asp214Glu
NM_000784.4:c.1062C>A MANE Select NP_000775.1:p.Asp354Glu
Search 100 bp 5'
Search 100 bp 3'