Canonical Allele Identifier: CA350592374
Gene: CYP27A1 HGNC NCBI

Linked Data

gnomAD v4: 2-218814147-C-T
MyVariant Identifiers: chr2:g.219678870C>T (hg19) chr2:g.218814147C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814147C>T , CM000664.2:g.218814147C>T GRCh38
NC_000002.11:g.219678870C>T , CM000664.1:g.219678870C>T GRCh37
NC_000002.10:g.219387114C>T NCBI36
NG_007959.1:g.37399C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1144C>T MANE Select ENSP00000258415.4:p.His382Tyr
ENST00000258415.8:c.1144C>T ENSP00000258415.4:p.His382Tyr
ENST00000494263.5:n.1578C>T
NM_000784.3:c.1144C>T NP_000775.1:p.His382Tyr
XM_017003488.2:c.724C>T XP_016858977.1:p.His242Tyr
NM_000784.4:c.1144C>T MANE Select NP_000775.1:p.His382Tyr
Search 100 bp 5'
Search 100 bp 3'