Canonical Allele Identifier: CA350592343
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219678866T>G (hg19) chr2:g.218814143T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814143T>G , CM000664.2:g.218814143T>G GRCh38
NC_000002.11:g.219678866T>G , CM000664.1:g.219678866T>G GRCh37
NC_000002.10:g.219387110T>G NCBI36
NG_007959.1:g.37395T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1140T>G MANE Select ENSP00000258415.4:p.Phe380Leu
ENST00000258415.8:c.1140T>G ENSP00000258415.4:p.Phe380Leu
ENST00000494263.5:n.1574T>G
NM_000784.3:c.1140T>G NP_000775.1:p.Phe380Leu
XM_017003488.2:c.720T>G XP_016858977.1:p.Phe240Leu
NM_000784.4:c.1140T>G MANE Select NP_000775.1:p.Phe380Leu
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