Canonical Allele Identifier: CA350592480
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219678879T>A (hg19) chr2:g.218814156T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814156T>A , CM000664.2:g.218814156T>A GRCh38
NC_000002.11:g.219678879T>A , CM000664.1:g.219678879T>A GRCh37
NC_000002.10:g.219387123T>A NCBI36
NG_007959.1:g.37408T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1153T>A MANE Select ENSP00000258415.4:p.Leu385Met
ENST00000258415.8:c.1153T>A ENSP00000258415.4:p.Leu385Met
ENST00000494263.5:n.1587T>A
NM_000784.3:c.1153T>A NP_000775.1:p.Leu385Met
XM_017003488.2:c.733T>A XP_016858977.1:p.Leu245Met
NM_000784.4:c.1153T>A MANE Select NP_000775.1:p.Leu385Met
Search 100 bp 5'
Search 100 bp 3'