Canonical Allele Identifier: CA2663166569
Gene: CYP27A1 HGNC NCBI

Linked Data

gnomAD v4: 2-218812514-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812514G>A , CM000664.2:g.218812514G>A GRCh38
NC_000002.11:g.219677237G>A , CM000664.1:g.219677237G>A GRCh37
NC_000002.10:g.219385481G>A NCBI36
NG_007959.1:g.35766G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.647-38G>A MANE Select ENSP00000258415.4:n.647-38G>A
ENST00000258415.8:c.647-38G>A ENSP00000258415.4:n.647-38G>A
ENST00000411688.1:c.365-38G>A ENSP00000392671.1:n.365-38G>A
ENST00000445971.1:c.*108-38G>A ENSP00000404945.1:n.*108-38G>A
ENST00000466602.1:n.557G>A
ENST00000494263.5:n.1081-38G>A
NM_000784.3:c.647-38G>A NP_000775.1:n.647-38G>A
XM_017003488.2:c.227-38G>A XP_016858977.1:n.227-38G>A
NM_000784.4:c.647-38G>A MANE Select NP_000775.1:n.647-38G>A
Search 100 bp 5'
Search 100 bp 3'