Canonical Allele Identifier: CA431414250
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219677315G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812592G>A , CM000664.2:g.218812592G>A GRCh38
NC_000002.11:g.219677315G>A , CM000664.1:g.219677315G>A GRCh37
NC_000002.10:g.219385559G>A NCBI36
NG_007959.1:g.35844G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.687G>A MANE Select ENSP00000258415.4:p.Leu229=
ENST00000258415.8:c.687G>A ENSP00000258415.4:p.Leu229=
ENST00000411688.1:c.405G>A ENSP00000392671.1:p.Leu135=
ENST00000445971.1:c.*148G>A ENSP00000404945.1:n.*148G>A
ENST00000466602.1:n.635G>A
ENST00000494263.5:n.1121G>A
NM_000784.3:c.687G>A NP_000775.1:p.Leu229=
XM_017003488.2:c.267G>A XP_016858977.1:p.Leu89=
NM_000784.4:c.687G>A MANE Select NP_000775.1:p.Leu229=
Search 100 bp 5'
Search 100 bp 3'