Canonical Allele Identifier: CA948105894

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1312209902
• gnomAD v3: 12-57763931-C-A
• gnomAD v4: 12-57763931-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763931C>A , CM000674.2:g.57763931C>A	GRCh38
NC_000012.11:g.58157714C>A , CM000674.1:g.58157714C>A	GRCh37
NC_000012.10:g.56443981C>A	NCBI36
NG_007076.1:g.8263G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1297-123G>T	ENSP00000518840.1:n.1297-123G>T
ENST00000713545.1:c.*221-123G>T	ENSP00000518841.1:n.*221-123G>T
ENST00000228606.9:c.1216-123G>T MANE Select	ENSP00000228606.4:n.1216-123G>T
ENST00000228606.8:c.1216-123G>T	ENSP00000228606.4:n.1216-123G>T
ENST00000547344.5:n.1355-123G>T
NM_000785.3:c.1216-123G>T	NP_000776.1:n.1216-123G>T
NM_000785.4:c.1216-123G>T MANE Select	NP_000776.1:n.1216-123G>T