Canonical Allele Identifier: CA948106511

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1955354943
• gnomAD v3: 12-57765784-T-A
• gnomAD v4: 12-57765784-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765784T>A , CM000674.2:g.57765784T>A	GRCh38
NC_000012.11:g.58159567T>A , CM000674.1:g.58159567T>A	GRCh37
NC_000012.10:g.56445834T>A	NCBI36
NG_007076.1:g.6410A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.298+223A>T
ENST00000713544.1:c.387-204A>T	ENSP00000518840.1:n.387-204A>T
ENST00000713545.1:c.386+223A>T	ENSP00000518841.1:n.386+223A>T
ENST00000228606.9:c.386+223A>T MANE Select	ENSP00000228606.4:n.386+223A>T
ENST00000228606.8:c.386+223A>T	ENSP00000228606.4:n.386+223A>T
ENST00000546496.1:n.214+223A>T
ENST00000546609.1:c.298+223A>T
ENST00000547344.5:n.440+223A>T
ENST00000552186.1:n.505+223A>T
NM_000785.3:c.386+223A>T	NP_000776.1:n.386+223A>T
NM_000785.4:c.386+223A>T MANE Select	NP_000776.1:n.386+223A>T