Canonical Allele Identifier: CA350592566
Gene: CYP27A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814163A>G , CM000664.2:g.218814163A>G GRCh38
NC_000002.11:g.219678886A>G , CM000664.1:g.219678886A>G GRCh37
NC_000002.10:g.219387130A>G NCBI36
NG_007959.1:g.37415A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1160A>G MANE Select ENSP00000258415.4:p.Lys387Arg
ENST00000258415.8:c.1160A>G ENSP00000258415.4:p.Lys387Arg
ENST00000494263.5:n.1594A>G
NM_000784.3:c.1160A>G NP_000775.1:p.Lys387Arg
XM_017003488.2:c.740A>G XP_016858977.1:p.Lys247Arg
NM_000784.4:c.1160A>G MANE Select NP_000775.1:p.Lys387Arg