Canonical Allele Identifier: CA350591749
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 498764
dbSNP Id: rs1215745374

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1083G>T MANE Select ENSP00000258415.4:p.Leu361Phe
ENST00000258415.8:c.1083G>T ENSP00000258415.4:p.Leu361Phe
ENST00000466602.1:n.1205G>T
ENST00000494263.5:n.1517G>T
NM_000784.3:c.1083G>T NP_000775.1:p.Leu361Phe
XM_017003488.2:c.663G>T XP_016858977.1:p.Leu221Phe
NM_000784.4:c.1083G>T MANE Select NP_000775.1:p.Leu361Phe