Canonical Allele Identifier: CA385501161
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58157545T>G (hg19) chr12:g.57763762T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763762T>G , CM000674.2:g.57763762T>G GRCh38
NC_000012.11:g.58157545T>G , CM000674.1:g.58157545T>G GRCh37
NC_000012.10:g.56443812T>G NCBI36
NG_007076.1:g.8432A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1343A>C ENSP00000518840.1:p.Gln448Pro
ENST00000713545.1:c.*267A>C ENSP00000518841.1:n.*267A>C
ENST00000228606.9:c.1262A>C MANE Select ENSP00000228606.4:p.Gln421Pro
ENST00000228606.8:c.1262A>C ENSP00000228606.4:p.Gln421Pro
ENST00000547344.5:n.1401A>C
NM_000785.3:c.1262A>C NP_000776.1:p.Gln421Pro
NM_000785.4:c.1262A>C MANE Select NP_000776.1:p.Gln421Pro
Search 100 bp 5'
Search 100 bp 3'