Canonical Allele Identifier: CA2575206558

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764305G>T , CM000674.2:g.57764305G>T	GRCh38
NC_000012.11:g.58158088G>T , CM000674.1:g.58158088G>T	GRCh37
NC_000012.10:g.56444355G>T	NCBI36
NG_007076.1:g.7889C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1217+73C>A	ENSP00000518840.1:n.1217+73C>A
ENST00000713545.1:c.*141+73C>A	ENSP00000518841.1:n.*141+73C>A
ENST00000228606.9:c.1136+73C>A MANE Select	ENSP00000228606.4:n.1136+73C>A
ENST00000228606.8:c.1136+73C>A	ENSP00000228606.4:n.1136+73C>A
ENST00000546567.5:c.431+73C>A	ENSP00000449472.1:n.431+73C>A
ENST00000547344.5:n.1275+73C>A
NM_000785.3:c.1136+73C>A	NP_000776.1:n.1136+73C>A
NM_000785.4:c.1136+73C>A MANE Select	NP_000776.1:n.1136+73C>A