Canonical Allele Identifier: CA350591836
Gene: CYP27A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814095A>T , CM000664.2:g.218814095A>T GRCh38
NC_000002.11:g.219678818A>T , CM000664.1:g.219678818A>T GRCh37
NC_000002.10:g.219387062A>T NCBI36
NG_007959.1:g.37347A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1092A>T MANE Select ENSP00000258415.4:p.Glu364Asp
ENST00000258415.8:c.1092A>T ENSP00000258415.4:p.Glu364Asp
ENST00000494263.5:n.1526A>T
NM_000784.3:c.1092A>T NP_000775.1:p.Glu364Asp
XM_017003488.2:c.672A>T XP_016858977.1:p.Glu224Asp
NM_000784.4:c.1092A>T MANE Select NP_000775.1:p.Glu364Asp