Canonical Allele Identifier: CA350586405
Gene: CYP27A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812615C>A , CM000664.2:g.218812615C>A GRCh38
NC_000002.11:g.219677338C>A , CM000664.1:g.219677338C>A GRCh37
NC_000002.10:g.219385582C>A NCBI36
NG_007959.1:g.35867C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.710C>A MANE Select ENSP00000258415.4:p.Thr237Asn
ENST00000258415.8:c.710C>A ENSP00000258415.4:p.Thr237Asn
ENST00000411688.1:c.428C>A ENSP00000392671.1:p.Thr143Asn
ENST00000445971.1:c.*171C>A ENSP00000404945.1:n.*171C>A
ENST00000466602.1:n.658C>A
ENST00000494263.5:n.1144C>A
NM_000784.3:c.710C>A NP_000775.1:p.Thr237Asn
XM_017003488.2:c.290C>A XP_016858977.1:p.Thr97Asn
NM_000784.4:c.710C>A MANE Select NP_000775.1:p.Thr237Asn