Canonical Allele Identifier: CA350576980
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1943401478

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782420C>A , CM000664.2:g.218782420C>A GRCh38
NC_000002.11:g.219647143C>A , CM000664.1:g.219647143C>A GRCh37
NC_000002.10:g.219355387C>A NCBI36
NG_007959.1:g.5672C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.238C>A MANE Select ENSP00000258415.4:p.Gln80Lys
ENST00000258415.8:c.238C>A ENSP00000258415.4:p.Gln80Lys
ENST00000445971.1:c.238C>A ENSP00000404945.1:p.Gln80Lys
ENST00000466602.1:n.247C>A
ENST00000494263.5:n.672C>A
NM_000784.3:c.238C>A NP_000775.1:p.Gln80Lys
XM_017003488.2:c.9C>A XP_016858977.1:p.Cys3Ter
NM_000784.4:c.238C>A MANE Select NP_000775.1:p.Gln80Lys