Canonical Allele Identifier: CA350592458
Gene: CYP27A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814154C>G , CM000664.2:g.218814154C>G GRCh38
NC_000002.11:g.219678877C>G , CM000664.1:g.219678877C>G GRCh37
NC_000002.10:g.219387121C>G NCBI36
NG_007959.1:g.37406C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1151C>G MANE Select ENSP00000258415.4:p.Pro384Arg
ENST00000258415.8:c.1151C>G ENSP00000258415.4:p.Pro384Arg
ENST00000494263.5:n.1585C>G
NM_000784.3:c.1151C>G NP_000775.1:p.Pro384Arg
XM_017003488.2:c.731C>G XP_016858977.1:p.Pro244Arg
NM_000784.4:c.1151C>G MANE Select NP_000775.1:p.Pro384Arg