Canonical Allele Identifier: CA350586225
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219677316C>G (hg19) chr2:g.218812593C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812593C>G , CM000664.2:g.218812593C>G GRCh38
NC_000002.11:g.219677316C>G , CM000664.1:g.219677316C>G GRCh37
NC_000002.10:g.219385560C>G NCBI36
NG_007959.1:g.35845C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.688C>G MANE Select ENSP00000258415.4:p.Gln230Glu
ENST00000258415.8:c.688C>G ENSP00000258415.4:p.Gln230Glu
ENST00000411688.1:c.406C>G ENSP00000392671.1:p.Gln136Glu
ENST00000445971.1:c.*149C>G ENSP00000404945.1:n.*149C>G
ENST00000466602.1:n.636C>G
ENST00000494263.5:n.1122C>G
NM_000784.3:c.688C>G NP_000775.1:p.Gln230Glu
XM_017003488.2:c.268C>G XP_016858977.1:p.Gln90Glu
NM_000784.4:c.688C>G MANE Select NP_000775.1:p.Gln230Glu
Search 100 bp 5'
Search 100 bp 3'