Canonical Allele Identifier: CA350586208
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219677314T>A (hg19) chr2:g.218812591T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812591T>A , CM000664.2:g.218812591T>A GRCh38
NC_000002.11:g.219677314T>A , CM000664.1:g.219677314T>A GRCh37
NC_000002.10:g.219385558T>A NCBI36
NG_007959.1:g.35843T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.686T>A MANE Select ENSP00000258415.4:p.Leu229Gln
ENST00000258415.8:c.686T>A ENSP00000258415.4:p.Leu229Gln
ENST00000411688.1:c.404T>A ENSP00000392671.1:p.Leu135Gln
ENST00000445971.1:c.*147T>A ENSP00000404945.1:n.*147T>A
ENST00000466602.1:n.634T>A
ENST00000494263.5:n.1120T>A
NM_000784.3:c.686T>A NP_000775.1:p.Leu229Gln
XM_017003488.2:c.266T>A XP_016858977.1:p.Leu89Gln
NM_000784.4:c.686T>A MANE Select NP_000775.1:p.Leu229Gln
Search 100 bp 5'
Search 100 bp 3'