Canonical Allele Identifier: CA65834619
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1385329
ClinVar RCV Id: RCV001888764
dbSNP Id: rs72551321

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814090G>T , CM000664.2:g.218814090G>T GRCh38
NC_000002.11:g.219678813G>T , CM000664.1:g.219678813G>T GRCh37
NC_000002.10:g.219387057G>T NCBI36
NG_007959.1:g.37342G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1087G>T MANE Select ENSP00000258415.4:p.Glu363Ter
ENST00000258415.8:c.1087G>T ENSP00000258415.4:p.Glu363Ter
ENST00000466602.1:n.1209G>T
ENST00000494263.5:n.1521G>T
NM_000784.3:c.1087G>T NP_000775.1:p.Glu363Ter
XM_017003488.2:c.667G>T XP_016858977.1:p.Glu223Ter
NM_000784.4:c.1087G>T MANE Select NP_000775.1:p.Glu363Ter