Canonical Allele Identifier: CA350586221
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219677316C>A (hg19) chr2:g.218812593C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812593C>A , CM000664.2:g.218812593C>A GRCh38
NC_000002.11:g.219677316C>A , CM000664.1:g.219677316C>A GRCh37
NC_000002.10:g.219385560C>A NCBI36
NG_007959.1:g.35845C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.688C>A MANE Select ENSP00000258415.4:p.Gln230Lys
ENST00000258415.8:c.688C>A ENSP00000258415.4:p.Gln230Lys
ENST00000411688.1:c.406C>A ENSP00000392671.1:p.Gln136Lys
ENST00000445971.1:c.*149C>A ENSP00000404945.1:n.*149C>A
ENST00000466602.1:n.636C>A
ENST00000494263.5:n.1122C>A
NM_000784.3:c.688C>A NP_000775.1:p.Gln230Lys
XM_017003488.2:c.268C>A XP_016858977.1:p.Gln90Lys
NM_000784.4:c.688C>A MANE Select NP_000775.1:p.Gln230Lys
Search 100 bp 5'
Search 100 bp 3'