Canonical Allele Identifier: CA340210
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4254
dbSNP Id: rs72551322

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814716C>T , CM000664.2:g.218814716C>T GRCh38
NC_000002.11:g.219679439C>T , CM000664.1:g.219679439C>T GRCh37
NC_000002.10:g.219387683C>T NCBI36
NG_007959.1:g.37968C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1435C>T MANE Select ENSP00000258415.4:p.Arg479Cys
ENST00000258415.8:c.1435C>T ENSP00000258415.4:p.Arg479Cys
ENST00000494263.5:n.2147C>T
NM_000784.3:c.1435C>T NP_000775.1:p.Arg479Cys
XM_017003488.2:c.1015C>T XP_016858977.1:p.Arg339Cys
NM_000784.4:c.1435C>T MANE Select NP_000775.1:p.Arg479Cys