Canonical Allele Identifier: CA350592176
Gene: CYP27A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814129C>A , CM000664.2:g.218814129C>A GRCh38
NC_000002.11:g.219678852C>A , CM000664.1:g.219678852C>A GRCh37
NC_000002.10:g.219387096C>A NCBI36
NG_007959.1:g.37381C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1126C>A MANE Select ENSP00000258415.4:p.Gln376Lys
ENST00000258415.8:c.1126C>A ENSP00000258415.4:p.Gln376Lys
ENST00000494263.5:n.1560C>A
NM_000784.3:c.1126C>A NP_000775.1:p.Gln376Lys
XM_017003488.2:c.706C>A XP_016858977.1:p.Gln236Lys
NM_000784.4:c.1126C>A MANE Select NP_000775.1:p.Gln376Lys