Canonical Allele Identifier: CA431234163
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1215745374
MyVariant Identifiers: chr2:g.219678809G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814086G>A , CM000664.2:g.218814086G>A GRCh38
NC_000002.11:g.219678809G>A , CM000664.1:g.219678809G>A GRCh37
NC_000002.10:g.219387053G>A NCBI36
NG_007959.1:g.37338G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1083G>A MANE Select ENSP00000258415.4:p.Leu361=
ENST00000258415.8:c.1083G>A ENSP00000258415.4:p.Leu361=
ENST00000466602.1:n.1205G>A
ENST00000494263.5:n.1517G>A
NM_000784.3:c.1083G>A NP_000775.1:p.Leu361=
XM_017003488.2:c.663G>A XP_016858977.1:p.Leu221=
NM_000784.4:c.1083G>A MANE Select NP_000775.1:p.Leu361=