Canonical Allele Identifier: CA431414494
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219677411T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812688T>G , CM000664.2:g.218812688T>G GRCh38
NC_000002.11:g.219677411T>G , CM000664.1:g.219677411T>G GRCh37
NC_000002.10:g.219385655T>G NCBI36
NG_007959.1:g.35940T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.783T>G MANE Select ENSP00000258415.4:p.Thr261=
ENST00000258415.8:c.783T>G ENSP00000258415.4:p.Thr261=
ENST00000411688.1:c.501T>G ENSP00000392671.1:p.Thr167=
ENST00000445971.1:c.*244T>G ENSP00000404945.1:n.*244T>G
ENST00000466602.1:n.731T>G
ENST00000494263.5:n.1217T>G
NM_000784.3:c.783T>G NP_000775.1:p.Thr261=
XM_017003488.2:c.363T>G XP_016858977.1:p.Thr121=
NM_000784.4:c.783T>G MANE Select NP_000775.1:p.Thr261=
Search 100 bp 5'
Search 100 bp 3'