Canonical Allele Identifier: CA2575206559
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764309C>A , CM000674.2:g.57764309C>A GRCh38
NC_000012.11:g.58158092C>A , CM000674.1:g.58158092C>A GRCh37
NC_000012.10:g.56444359C>A NCBI36
NG_007076.1:g.7885G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1217+69G>T ENSP00000518840.1:n.1217+69G>T
ENST00000713545.1:c.*141+69G>T ENSP00000518841.1:n.*141+69G>T
ENST00000228606.9:c.1136+69G>T MANE Select ENSP00000228606.4:n.1136+69G>T
ENST00000228606.8:c.1136+69G>T ENSP00000228606.4:n.1136+69G>T
ENST00000546567.5:c.431+69G>T ENSP00000449472.1:n.431+69G>T
ENST00000547344.5:n.1275+69G>T
NM_000785.3:c.1136+69G>T NP_000776.1:n.1136+69G>T
NM_000785.4:c.1136+69G>T MANE Select NP_000776.1:n.1136+69G>T