Canonical Allele Identifier: CA431233880
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219677651G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812928G>A , CM000664.2:g.218812928G>A GRCh38
NC_000002.11:g.219677651G>A , CM000664.1:g.219677651G>A GRCh37
NC_000002.10:g.219385895G>A NCBI36
NG_007959.1:g.36180G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.849G>A MANE Select ENSP00000258415.4:p.Lys283=
ENST00000258415.8:c.849G>A ENSP00000258415.4:p.Lys283=
ENST00000411688.1:c.567G>A ENSP00000392671.1:p.Lys189=
ENST00000445971.1:c.*310G>A ENSP00000404945.1:n.*310G>A
ENST00000466602.1:n.971G>A
ENST00000494263.5:n.1283G>A
NM_000784.3:c.849G>A NP_000775.1:p.Lys283=
XM_017003488.2:c.429G>A XP_016858977.1:p.Lys143=
NM_000784.4:c.849G>A MANE Select NP_000775.1:p.Lys283=
Search 100 bp 5'
Search 100 bp 3'