Canonical Allele Identifier: CA1328916367
Gene: CYP27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782694T= , CM000664.2:g.218782694T= GRCh38
NC_000002.11:g.219647417T= , CM000664.1:g.219647417T= GRCh37
NC_000002.10:g.219355661T= NCBI36
NG_007959.1:g.5946T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.255+257T= MANE Select ENSP00000258415.4:n.255+257T=
ENST00000258415.8:c.255+257T= ENSP00000258415.4:n.255+257T=
ENST00000445971.1:c.255+257T= ENSP00000404945.1:n.255+257T=
ENST00000466602.1:n.264+257T=
ENST00000494263.5:n.689+257T=
NM_000784.3:c.255+257T= NP_000775.1:n.255+257T=
XM_017003488.2:c.26+257T= XP_016858977.1:n.26+257T=
NM_000784.4:c.255+257T= MANE Select NP_000775.1:n.255+257T=