Canonical Allele Identifier: CA1328928952
Gene: CYP27A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812807C= , CM000664.2:g.218812807C= GRCh38
NC_000002.11:g.219677530C= , CM000664.1:g.219677530C= GRCh37
NC_000002.10:g.219385774C= NCBI36
NG_007959.1:g.36059C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.844+58C= MANE Select ENSP00000258415.4:n.844+58C=
ENST00000258415.8:c.844+58C= ENSP00000258415.4:n.844+58C=
ENST00000411688.1:c.562+58C= ENSP00000392671.1:n.562+58C=
ENST00000445971.1:c.*305+58C= ENSP00000404945.1:n.*305+58C=
ENST00000466602.1:n.850C=
ENST00000494263.5:n.1278+58C=
NM_000784.3:c.844+58C= NP_000775.1:n.844+58C=
XM_017003488.2:c.424+58C= XP_016858977.1:n.424+58C=
NM_000784.4:c.844+58C= MANE Select NP_000775.1:n.844+58C=
Search 100 bp 5'
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