Canonical Allele Identifier: CA431234151
Gene: CYP27A1 HGNC NCBI

Linked Data

gnomAD v4: 2-218814065-C-T
MyVariant Identifiers: chr2:g.219678788C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814065C>T , CM000664.2:g.218814065C>T GRCh38
NC_000002.11:g.219678788C>T , CM000664.1:g.219678788C>T GRCh37
NC_000002.10:g.219387032C>T NCBI36
NG_007959.1:g.37317C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1062C>T MANE Select ENSP00000258415.4:p.Asp354=
ENST00000258415.8:c.1062C>T ENSP00000258415.4:p.Asp354=
ENST00000445971.1:c.*523C>T ENSP00000404945.1:n.*523C>T
ENST00000466602.1:n.1184C>T
ENST00000494263.5:n.1496C>T
NM_000784.3:c.1062C>T NP_000775.1:p.Asp354=
XM_017003488.2:c.642C>T XP_016858977.1:p.Asp214=
NM_000784.4:c.1062C>T MANE Select NP_000775.1:p.Asp354=
Search 100 bp 5'
Search 100 bp 3'