Canonical Allele Identifier: CA2575206573

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764613A>G , CM000674.2:g.57764613A>G	GRCh38
NC_000012.11:g.58158396A>G , CM000674.1:g.58158396A>G	GRCh37
NC_000012.10:g.56444663A>G	NCBI36
NG_007076.1:g.7581T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1045-63T>C	ENSP00000518840.1:n.1045-63T>C
ENST00000713545.1:c.1022-63T>C	ENSP00000518841.1:n.1022-63T>C
ENST00000228606.9:c.964-63T>C MANE Select	ENSP00000228606.4:n.964-63T>C
ENST00000228606.8:c.964-63T>C	ENSP00000228606.4:n.964-63T>C
ENST00000546567.5:c.259-63T>C	ENSP00000449472.1:n.259-63T>C
ENST00000547344.5:n.1103-63T>C
ENST00000547451.1:n.904T>C
NM_000785.3:c.964-63T>C	NP_000776.1:n.964-63T>C
NM_000785.4:c.964-63T>C MANE Select	NP_000776.1:n.964-63T>C