Canonical Allele Identifier: CA345226
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65891
ClinVar RCV Id: RCV000056136
dbSNP Id: rs72551315

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812596C>T , CM000664.2:g.218812596C>T GRCh38
NC_000002.11:g.219677319C>T , CM000664.1:g.219677319C>T GRCh37
NC_000002.10:g.219385563C>T NCBI36
NG_007959.1:g.35848C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.691C>T MANE Select ENSP00000258415.4:p.Arg231Ter
ENST00000258415.8:c.691C>T ENSP00000258415.4:p.Arg231Ter
ENST00000411688.1:c.409C>T ENSP00000392671.1:p.Arg137Ter
ENST00000445971.1:c.*152C>T ENSP00000404945.1:n.*152C>T
ENST00000466602.1:n.639C>T
ENST00000494263.5:n.1125C>T
NM_000784.3:c.691C>T NP_000775.1:p.Arg231Ter
XM_017003488.2:c.271C>T XP_016858977.1:p.Arg91Ter
NM_000784.4:c.691C>T MANE Select NP_000775.1:p.Arg231Ter