Canonical Allele Identifier: CA385500764
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763651C>T , CM000674.2:g.57763651C>T GRCh38
NC_000012.11:g.58157434C>T , CM000674.1:g.58157434C>T GRCh37
NC_000012.10:g.56443701C>T NCBI36
NG_007076.1:g.8543G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1454G>A ENSP00000518840.1:p.Arg485Lys
ENST00000713545.1:c.*378G>A ENSP00000518841.1:n.*378G>A
ENST00000228606.9:c.1373G>A MANE Select ENSP00000228606.4:p.Arg458Lys
ENST00000228606.8:c.1373G>A ENSP00000228606.4:p.Arg458Lys
ENST00000547344.5:n.1512G>A
NM_000785.3:c.1373G>A NP_000776.1:p.Arg458Lys
NM_000785.4:c.1373G>A MANE Select NP_000776.1:p.Arg458Lys