Canonical Allele Identifier: CA431414510
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219677417C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812694C>G , CM000664.2:g.218812694C>G GRCh38
NC_000002.11:g.219677417C>G , CM000664.1:g.219677417C>G GRCh37
NC_000002.10:g.219385661C>G NCBI36
NG_007959.1:g.35946C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.789C>G MANE Select ENSP00000258415.4:p.Pro263=
ENST00000258415.8:c.789C>G ENSP00000258415.4:p.Pro263=
ENST00000411688.1:c.507C>G ENSP00000392671.1:p.Pro169=
ENST00000445971.1:c.*250C>G ENSP00000404945.1:n.*250C>G
ENST00000466602.1:n.737C>G
ENST00000494263.5:n.1223C>G
NM_000784.3:c.789C>G NP_000775.1:p.Pro263=
XM_017003488.2:c.369C>G XP_016858977.1:p.Pro123=
NM_000784.4:c.789C>G MANE Select NP_000775.1:p.Pro263=
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Search 100 bp 3'