Canonical Allele Identifier: CA690331153

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1400692089
• gnomAD v3: 12-57765278-G-T
• gnomAD v4: 12-57765278-G-T
• MyVariant Identifiers: chr12:g.58159061G>T (hg19) ; chr12:g.57765278G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765278G>T , CM000674.2:g.57765278G>T	GRCh38
NC_000012.11:g.58159061G>T , CM000674.1:g.58159061G>T	GRCh37
NC_000012.10:g.56445328G>T	NCBI36
NG_007076.1:g.6916C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.501+19C>A
ENST00000713544.1:c.670+19C>A	ENSP00000518840.1:n.670+19C>A
ENST00000713545.1:c.647+19C>A	ENSP00000518841.1:n.647+19C>A
ENST00000228606.9:c.589+19C>A MANE Select	ENSP00000228606.4:n.589+19C>A
ENST00000228606.8:c.589+19C>A	ENSP00000228606.4:n.589+19C>A
ENST00000546567.5:c.-117+19C>A	ENSP00000449472.1:n.-117+19C>A
ENST00000546609.1:c.501+19C>A
ENST00000547344.5:n.662C>A
ENST00000547451.1:n.389+19C>A
NM_000785.3:c.589+19C>A	NP_000776.1:n.589+19C>A
NM_000785.4:c.589+19C>A MANE Select	NP_000776.1:n.589+19C>A