Canonical Allele Identifier: CA350576317
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219647071A>C (hg19) chr2:g.218782348A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218782348A>C , CM000664.2:g.218782348A>C GRCh38
NC_000002.11:g.219647071A>C , CM000664.1:g.219647071A>C GRCh37
NC_000002.10:g.219355315A>C NCBI36
NG_007959.1:g.5600A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.166A>C MANE Select ENSP00000258415.4:p.Ser56Arg
ENST00000258415.8:c.166A>C ENSP00000258415.4:p.Ser56Arg
ENST00000445971.1:c.166A>C ENSP00000404945.1:p.Ser56Arg
ENST00000466602.1:n.175A>C
ENST00000494263.5:n.600A>C
NM_000784.3:c.166A>C NP_000775.1:p.Ser56Arg
XM_017003488.2:c.-64A>C XP_016858977.1:n.-64A>C
NM_000784.4:c.166A>C MANE Select NP_000775.1:p.Ser56Arg
Search 100 bp 5'
Search 100 bp 3'