Canonical Allele Identifier: CA350595152
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219679428C>G (hg19) chr2:g.218814705C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814705C>G , CM000664.2:g.218814705C>G GRCh38
NC_000002.11:g.219679428C>G , CM000664.1:g.219679428C>G GRCh37
NC_000002.10:g.219387672C>G NCBI36
NG_007959.1:g.37957C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1424C>G MANE Select ENSP00000258415.4:p.Ala475Gly
ENST00000258415.8:c.1424C>G ENSP00000258415.4:p.Ala475Gly
ENST00000494263.5:n.2136C>G
NM_000784.3:c.1424C>G NP_000775.1:p.Ala475Gly
XM_017003488.2:c.1004C>G XP_016858977.1:p.Ala335Gly
NM_000784.4:c.1424C>G MANE Select NP_000775.1:p.Ala475Gly
Search 100 bp 5'
Search 100 bp 3'