Canonical Allele Identifier: CA385501102
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763735G>T , CM000674.2:g.57763735G>T GRCh38
NC_000012.11:g.58157518G>T , CM000674.1:g.58157518G>T GRCh37
NC_000012.10:g.56443785G>T NCBI36
NG_007076.1:g.8459C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1370C>A ENSP00000518840.1:p.Pro457Gln
ENST00000713545.1:c.*294C>A ENSP00000518841.1:n.*294C>A
ENST00000228606.9:c.1289C>A MANE Select ENSP00000228606.4:p.Pro430Gln
ENST00000228606.8:c.1289C>A ENSP00000228606.4:p.Pro430Gln
ENST00000547344.5:n.1428C>A
NM_000785.3:c.1289C>A NP_000776.1:p.Pro430Gln
NM_000785.4:c.1289C>A MANE Select NP_000776.1:p.Pro430Gln