Canonical Allele Identifier: CA2038990285

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1595118831
• gnomAD v4: 12-57765821-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765821C>T , CM000674.2:g.57765821C>T	GRCh38
NC_000012.11:g.58159604C>T , CM000674.1:g.58159604C>T	GRCh37
NC_000012.10:g.56445871C>T	NCBI36
NG_007076.1:g.6373G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.298+186G>A
ENST00000713544.1:c.386+186G>A	ENSP00000518840.1:n.386+186G>A
ENST00000713545.1:c.386+186G>A	ENSP00000518841.1:n.386+186G>A
ENST00000228606.9:c.386+186G>A MANE Select	ENSP00000228606.4:n.386+186G>A
ENST00000228606.8:c.386+186G>A	ENSP00000228606.4:n.386+186G>A
ENST00000546496.1:n.214+186G>A
ENST00000546609.1:c.298+186G>A
ENST00000547344.5:n.440+186G>A
ENST00000552186.1:n.505+186G>A
NM_000785.3:c.386+186G>A	NP_000776.1:n.386+186G>A
NM_000785.4:c.386+186G>A MANE Select	NP_000776.1:n.386+186G>A