Canonical Allele Identifier: CA350586945
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219677389C>G (hg19) chr2:g.218812666C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812666C>G , CM000664.2:g.218812666C>G GRCh38
NC_000002.11:g.219677389C>G , CM000664.1:g.219677389C>G GRCh37
NC_000002.10:g.219385633C>G NCBI36
NG_007959.1:g.35918C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.761C>G MANE Select ENSP00000258415.4:p.Ala254Gly
ENST00000258415.8:c.761C>G ENSP00000258415.4:p.Ala254Gly
ENST00000411688.1:c.479C>G ENSP00000392671.1:p.Ala160Gly
ENST00000445971.1:c.*222C>G ENSP00000404945.1:n.*222C>G
ENST00000466602.1:n.709C>G
ENST00000494263.5:n.1195C>G
NM_000784.3:c.761C>G NP_000775.1:p.Ala254Gly
XM_017003488.2:c.341C>G XP_016858977.1:p.Ala114Gly
NM_000784.4:c.761C>G MANE Select NP_000775.1:p.Ala254Gly
Search 100 bp 5'
Search 100 bp 3'