Canonical Allele Identifier: CA350592787
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219678909C>G (hg19) chr2:g.218814186C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814186C>G , CM000664.2:g.218814186C>G GRCh38
NC_000002.11:g.219678909C>G , CM000664.1:g.219678909C>G GRCh37
NC_000002.10:g.219387153C>G NCBI36
NG_007959.1:g.37438C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1183C>G MANE Select ENSP00000258415.4:p.Arg395Gly
ENST00000258415.8:c.1183C>G ENSP00000258415.4:p.Arg395Gly
ENST00000494263.5:n.1617C>G
NM_000784.3:c.1183C>G NP_000775.1:p.Arg395Gly
XM_017003488.2:c.763C>G XP_016858977.1:p.Arg255Gly
NM_000784.4:c.1183C>G MANE Select NP_000775.1:p.Arg395Gly
Search 100 bp 5'
Search 100 bp 3'