Canonical Allele Identifier: CA350587096
Gene: CYP27A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219677410C>A (hg19) chr2:g.218812687C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812687C>A , CM000664.2:g.218812687C>A GRCh38
NC_000002.11:g.219677410C>A , CM000664.1:g.219677410C>A GRCh37
NC_000002.10:g.219385654C>A NCBI36
NG_007959.1:g.35939C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.782C>A MANE Select ENSP00000258415.4:p.Thr261Asn
ENST00000258415.8:c.782C>A ENSP00000258415.4:p.Thr261Asn
ENST00000411688.1:c.500C>A ENSP00000392671.1:p.Thr167Asn
ENST00000445971.1:c.*243C>A ENSP00000404945.1:n.*243C>A
ENST00000466602.1:n.730C>A
ENST00000494263.5:n.1216C>A
NM_000784.3:c.782C>A NP_000775.1:p.Thr261Asn
XM_017003488.2:c.362C>A XP_016858977.1:p.Thr121Asn
NM_000784.4:c.782C>A MANE Select NP_000775.1:p.Thr261Asn
Search 100 bp 5'
Search 100 bp 3'