Canonical Allele Identifier: CA431414198
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219647121G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782398G>A , CM000664.2:g.218782398G>A GRCh38
NC_000002.11:g.219647121G>A , CM000664.1:g.219647121G>A GRCh37
NC_000002.10:g.219355365G>A NCBI36
NG_007959.1:g.5650G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.216G>A MANE Select ENSP00000258415.4:p.Leu72=
ENST00000258415.8:c.216G>A ENSP00000258415.4:p.Leu72=
ENST00000445971.1:c.216G>A ENSP00000404945.1:p.Leu72=
ENST00000466602.1:n.225G>A
ENST00000494263.5:n.650G>A
NM_000784.3:c.216G>A NP_000775.1:p.Leu72=
XM_017003488.2:c.-14G>A XP_016858977.1:n.-14G>A
NM_000784.4:c.216G>A MANE Select NP_000775.1:p.Leu72=
Search 100 bp 5'
Search 100 bp 3'