Canonical Allele Identifier: CA350592321
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219678864T>G (hg19) chr2:g.218814141T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814141T>G , CM000664.2:g.218814141T>G GRCh38
NC_000002.11:g.219678864T>G , CM000664.1:g.219678864T>G GRCh37
NC_000002.10:g.219387108T>G NCBI36
NG_007959.1:g.37393T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1138T>G MANE Select ENSP00000258415.4:p.Phe380Val
ENST00000258415.8:c.1138T>G ENSP00000258415.4:p.Phe380Val
ENST00000494263.5:n.1572T>G
NM_000784.3:c.1138T>G NP_000775.1:p.Phe380Val
XM_017003488.2:c.718T>G XP_016858977.1:p.Phe240Val
NM_000784.4:c.1138T>G MANE Select NP_000775.1:p.Phe380Val
Search 100 bp 5'
Search 100 bp 3'