Canonical Allele Identifier: CA2619517021

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765230-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765230C>G , CM000674.2:g.57765230C>G	GRCh38
NC_000012.11:g.58159013C>G , CM000674.1:g.58159013C>G	GRCh37
NC_000012.10:g.56445280C>G	NCBI36
NG_007076.1:g.6964G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.502-19G>C
ENST00000713544.1:c.671-19G>C	ENSP00000518840.1:n.671-19G>C
ENST00000713545.1:c.648-19G>C	ENSP00000518841.1:n.648-19G>C
ENST00000228606.9:c.590-19G>C MANE Select	ENSP00000228606.4:n.590-19G>C
ENST00000228606.8:c.590-19G>C	ENSP00000228606.4:n.590-19G>C
ENST00000546567.5:c.-116-19G>C	ENSP00000449472.1:n.-116-19G>C
ENST00000546609.1:c.502-19G>C
ENST00000547344.5:n.710G>C
ENST00000547451.1:n.390-19G>C
NM_000785.3:c.590-19G>C	NP_000776.1:n.590-19G>C
NM_000785.4:c.590-19G>C MANE Select	NP_000776.1:n.590-19G>C