Canonical Allele Identifier: CA2663168071
Gene: CYP27A1 HGNC NCBI

Linked Data

gnomAD v4: 2-218814194-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814194C>A , CM000664.2:g.218814194C>A GRCh38
NC_000002.11:g.219678917C>A , CM000664.1:g.219678917C>A GRCh37
NC_000002.10:g.219387161C>A NCBI36
NG_007959.1:g.37446C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1184+7C>A MANE Select ENSP00000258415.4:n.1184+7C>A
ENST00000258415.8:c.1184+7C>A ENSP00000258415.4:n.1184+7C>A
ENST00000494263.5:n.1625C>A
NM_000784.3:c.1184+7C>A NP_000775.1:n.1184+7C>A
XM_017003488.2:c.764+7C>A XP_016858977.1:n.764+7C>A
NM_000784.4:c.1184+7C>A MANE Select NP_000775.1:n.1184+7C>A
Search 100 bp 5'
Search 100 bp 3'