Canonical Allele Identifier: CA1328928887
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812686A= , CM000664.2:g.218812686A= GRCh38
NC_000002.11:g.219677409A= , CM000664.1:g.219677409A= GRCh37
NC_000002.10:g.219385653A= NCBI36
NG_007959.1:g.35938A=

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.781A= MANE Select ENSP00000258415.4:p.Thr261=
ENST00000258415.8:c.781A= ENSP00000258415.4:p.Thr261=
ENST00000411688.1:c.499A= ENSP00000392671.1:p.Thr167=
ENST00000445971.1:c.*242A= ENSP00000404945.1:n.*242A=
ENST00000466602.1:n.729A=
ENST00000494263.5:n.1215A=
NM_000784.3:c.781A= NP_000775.1:p.Thr261=
XM_017003488.2:c.361A= XP_016858977.1:p.Thr121=
NM_000784.4:c.781A= MANE Select NP_000775.1:p.Thr261=