Canonical Allele Identifier: CA431414240
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219677309C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812586C>G , CM000664.2:g.218812586C>G GRCh38
NC_000002.11:g.219677309C>G , CM000664.1:g.219677309C>G GRCh37
NC_000002.10:g.219385553C>G NCBI36
NG_007959.1:g.35838C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.681C>G MANE Select ENSP00000258415.4:p.Gly227=
ENST00000258415.8:c.681C>G ENSP00000258415.4:p.Gly227=
ENST00000411688.1:c.399C>G ENSP00000392671.1:p.Gly133=
ENST00000445971.1:c.*142C>G ENSP00000404945.1:n.*142C>G
ENST00000466602.1:n.629C>G
ENST00000494263.5:n.1115C>G
NM_000784.3:c.681C>G NP_000775.1:p.Gly227=
XM_017003488.2:c.261C>G XP_016858977.1:p.Gly87=
NM_000784.4:c.681C>G MANE Select NP_000775.1:p.Gly227=
Search 100 bp 5'
Search 100 bp 3'