Canonical Allele Identifier: CA350586351
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219677332A>G (hg19) chr2:g.218812609A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812609A>G , CM000664.2:g.218812609A>G GRCh38
NC_000002.11:g.219677332A>G , CM000664.1:g.219677332A>G GRCh37
NC_000002.10:g.219385576A>G NCBI36
NG_007959.1:g.35861A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.704A>G MANE Select ENSP00000258415.4:p.Glu235Gly
ENST00000258415.8:c.704A>G ENSP00000258415.4:p.Glu235Gly
ENST00000411688.1:c.422A>G ENSP00000392671.1:p.Glu141Gly
ENST00000445971.1:c.*165A>G ENSP00000404945.1:n.*165A>G
ENST00000466602.1:n.652A>G
ENST00000494263.5:n.1138A>G
NM_000784.3:c.704A>G NP_000775.1:p.Glu235Gly
XM_017003488.2:c.284A>G XP_016858977.1:p.Glu95Gly
NM_000784.4:c.704A>G MANE Select NP_000775.1:p.Glu235Gly
Search 100 bp 5'
Search 100 bp 3'