Canonical Allele Identifier: CA2796149633

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764663C>A , CM000674.2:g.57764663C>A	GRCh38
NC_000012.11:g.58158446C>A , CM000674.1:g.58158446C>A	GRCh37
NC_000012.10:g.56444713C>A	NCBI36
NG_007076.1:g.7531G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1044+91G>T	ENSP00000518840.1:n.1044+91G>T
ENST00000713545.1:c.1021+91G>T	ENSP00000518841.1:n.1021+91G>T
ENST00000228606.9:c.963+91G>T MANE Select	ENSP00000228606.4:n.963+91G>T
ENST00000228606.8:c.963+91G>T	ENSP00000228606.4:n.963+91G>T
ENST00000546567.5:c.258+91G>T	ENSP00000449472.1:n.258+91G>T
ENST00000547344.5:n.1102+91G>T
ENST00000547451.1:n.854G>T
NM_000785.3:c.963+91G>T	NP_000776.1:n.963+91G>T
NM_000785.4:c.963+91G>T MANE Select	NP_000776.1:n.963+91G>T