Canonical Allele Identifier: CA431234348
Gene: CYP27A1 HGNC NCBI

Linked Data

gnomAD v4: 2-218814916-C-A
MyVariant Identifiers: chr2:g.219679639C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814916C>A , CM000664.2:g.218814916C>A GRCh38
NC_000002.11:g.219679639C>A , CM000664.1:g.219679639C>A GRCh37
NC_000002.10:g.219387883C>A NCBI36
NG_007959.1:g.38168C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1482C>A MANE Select ENSP00000258415.4:p.Ile494=
ENST00000258415.8:c.1482C>A ENSP00000258415.4:p.Ile494=
ENST00000494263.5:n.2194C>A
NM_000784.3:c.1482C>A NP_000775.1:p.Ile494=
XM_017003488.2:c.1062C>A XP_016858977.1:p.Ile354=
NM_000784.4:c.1482C>A MANE Select NP_000775.1:p.Ile494=
Search 100 bp 5'
Search 100 bp 3'