Canonical Allele Identifier: CA1328928782
Gene: CYP27A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812485C= , CM000664.2:g.218812485C= GRCh38
NC_000002.11:g.219677208C= , CM000664.1:g.219677208C= GRCh37
NC_000002.10:g.219385452C= NCBI36
NG_007959.1:g.35737C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.646+64C= MANE Select ENSP00000258415.4:n.646+64C=
ENST00000258415.8:c.646+64C= ENSP00000258415.4:n.646+64C=
ENST00000411688.1:c.364+64C= ENSP00000392671.1:n.364+64C=
ENST00000445971.1:c.*107+64C= ENSP00000404945.1:n.*107+64C=
ENST00000466602.1:n.528C=
ENST00000494263.5:n.1080+64C=
NM_000784.3:c.646+64C= NP_000775.1:n.646+64C=
XM_017003488.2:c.226+64C= XP_016858977.1:n.226+64C=
NM_000784.4:c.646+64C= MANE Select NP_000775.1:n.646+64C=
Search 100 bp 5'
Search 100 bp 3'