Canonical Allele Identifier: CA2039015749

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1955338098
• gnomAD v4: 12-57763916-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763916A>G , CM000674.2:g.57763916A>G	GRCh38
NC_000012.11:g.58157699A>G , CM000674.1:g.58157699A>G	GRCh37
NC_000012.10:g.56443966A>G	NCBI36
NG_007076.1:g.8278T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1297-108T>C	ENSP00000518840.1:n.1297-108T>C
ENST00000713545.1:c.*221-108T>C	ENSP00000518841.1:n.*221-108T>C
ENST00000228606.9:c.1216-108T>C MANE Select	ENSP00000228606.4:n.1216-108T>C
ENST00000228606.8:c.1216-108T>C	ENSP00000228606.4:n.1216-108T>C
ENST00000547344.5:n.1355-108T>C
NM_000785.3:c.1216-108T>C	NP_000776.1:n.1216-108T>C
NM_000785.4:c.1216-108T>C MANE Select	NP_000776.1:n.1216-108T>C