Canonical Allele Identifier: CA2663167286
Gene: CYP27A1 HGNC NCBI

Linked Data

gnomAD v4: 2-218812901-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812901C>T , CM000664.2:g.218812901C>T GRCh38
NC_000002.11:g.219677624C>T , CM000664.1:g.219677624C>T GRCh37
NC_000002.10:g.219385868C>T NCBI36
NG_007959.1:g.36153C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.845-23C>T MANE Select ENSP00000258415.4:n.845-23C>T
ENST00000258415.8:c.845-23C>T ENSP00000258415.4:n.845-23C>T
ENST00000411688.1:c.563-23C>T ENSP00000392671.1:n.563-23C>T
ENST00000445971.1:c.*306-23C>T ENSP00000404945.1:n.*306-23C>T
ENST00000466602.1:n.944C>T
ENST00000494263.5:n.1279-23C>T
NM_000784.3:c.845-23C>T NP_000775.1:n.845-23C>T
XM_017003488.2:c.425-23C>T XP_016858977.1:n.425-23C>T
NM_000784.4:c.845-23C>T MANE Select NP_000775.1:n.845-23C>T
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