Canonical Allele Identifier: CA385505657

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765212C>T , CM000674.2:g.57765212C>T	GRCh38
NC_000012.11:g.58158995C>T , CM000674.1:g.58158995C>T	GRCh37
NC_000012.10:g.56445262C>T	NCBI36
NG_007076.1:g.6982G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000785.4:c.590-1G>A MANE Select	NP_000776.1:n.590-1G>A
ENST00000228606.9:c.590-1G>A MANE Select	ENSP00000228606.4:n.590-1G>A
NM_000785.3:c.590-1G>A	NP_000776.1:n.590-1G>A
ENST00000228606.8:c.590-1G>A	ENSP00000228606.4:n.590-1G>A
ENST00000546567.5:c.-116-1G>A	ENSP00000449472.1:n.-116-1G>A
ENST00000546609.1:c.502-1G>A
ENST00000546609.2:n.502-1G>A
ENST00000547344.5:n.728G>A
ENST00000547451.1:n.390-1G>A
ENST00000713544.1:c.671-1G>A	ENSP00000518840.1:n.671-1G>A
ENST00000713545.1:c.648-1G>A	ENSP00000518841.1:n.648-1G>A