Canonical Allele Identifier: CA2038990017

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1955354093
• gnomAD v4: 12-57765653-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765653T>A , CM000674.2:g.57765653T>A	GRCh38
NC_000012.11:g.58159436T>A , CM000674.1:g.58159436T>A	GRCh37
NC_000012.10:g.56445703T>A	NCBI36
NG_007076.1:g.6541A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-154A>T
ENST00000713544.1:c.387-73A>T	ENSP00000518840.1:n.387-73A>T
ENST00000713545.1:c.387-96A>T	ENSP00000518841.1:n.387-96A>T
ENST00000228606.9:c.387-154A>T MANE Select	ENSP00000228606.4:n.387-154A>T
ENST00000228606.8:c.387-154A>T	ENSP00000228606.4:n.387-154A>T
ENST00000546496.1:n.215-154A>T
ENST00000546567.5:c.-473A>T	ENSP00000449472.1:n.-473A>T
ENST00000546609.1:c.299-154A>T
ENST00000547344.5:n.441-154A>T
ENST00000547451.1:n.33A>T
ENST00000552186.1:n.506-154A>T
NM_000785.3:c.387-154A>T	NP_000776.1:n.387-154A>T
NM_000785.4:c.387-154A>T MANE Select	NP_000776.1:n.387-154A>T