Canonical Allele Identifier: CA350587539
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219677447T>G (hg19) chr2:g.218812724T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812724T>G , CM000664.2:g.218812724T>G GRCh38
NC_000002.11:g.219677447T>G , CM000664.1:g.219677447T>G GRCh37
NC_000002.10:g.219385691T>G NCBI36
NG_007959.1:g.35976T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.819T>G MANE Select ENSP00000258415.4:p.Asp273Glu
ENST00000258415.8:c.819T>G ENSP00000258415.4:p.Asp273Glu
ENST00000411688.1:c.537T>G ENSP00000392671.1:p.Asp179Glu
ENST00000445971.1:c.*280T>G ENSP00000404945.1:n.*280T>G
ENST00000466602.1:n.767T>G
ENST00000494263.5:n.1253T>G
NM_000784.3:c.819T>G NP_000775.1:p.Asp273Glu
XM_017003488.2:c.399T>G XP_016858977.1:p.Asp133Glu
NM_000784.4:c.819T>G MANE Select NP_000775.1:p.Asp273Glu
Search 100 bp 5'
Search 100 bp 3'