Canonical Allele Identifier: CA2663167843
Gene: CYP27A1 HGNC NCBI

Linked Data

gnomAD v4: 2-218813946-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218813946C>T , CM000664.2:g.218813946C>T GRCh38
NC_000002.11:g.219678669C>T , CM000664.1:g.219678669C>T GRCh37
NC_000002.10:g.219386913C>T NCBI36
NG_007959.1:g.37198C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1018-75C>T MANE Select ENSP00000258415.4:n.1018-75C>T
ENST00000258415.8:c.1018-75C>T ENSP00000258415.4:n.1018-75C>T
ENST00000445971.1:c.*479-75C>T ENSP00000404945.1:n.*479-75C>T
ENST00000466602.1:n.1140-75C>T
ENST00000494263.5:n.1452-75C>T
NM_000784.3:c.1018-75C>T NP_000775.1:n.1018-75C>T
XM_017003488.2:c.598-75C>T XP_016858977.1:n.598-75C>T
NM_000784.4:c.1018-75C>T MANE Select NP_000775.1:n.1018-75C>T
Search 100 bp 5'
Search 100 bp 3'