Canonical Allele Identifier: CA539840570
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs575111058

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814209G>A , CM000664.2:g.218814209G>A GRCh38
NC_000002.11:g.219678932G>A , CM000664.1:g.219678932G>A GRCh37
NC_000002.10:g.219387176G>A NCBI36
NG_007959.1:g.37461G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1184+22G>A MANE Select ENSP00000258415.4:n.1184+22G>A
ENST00000258415.8:c.1184+22G>A ENSP00000258415.4:n.1184+22G>A
ENST00000494263.5:n.1640G>A
NM_000784.3:c.1184+22G>A NP_000775.1:n.1184+22G>A
XM_017003488.2:c.764+22G>A XP_016858977.1:n.764+22G>A
NM_000784.4:c.1184+22G>A MANE Select NP_000775.1:n.1184+22G>A