Canonical Allele Identifier: CA690332257
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1328217954

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766232T>C , CM000674.2:g.57766232T>C GRCh38
NC_000012.11:g.58160015T>C , CM000674.1:g.58160015T>C GRCh37
NC_000012.10:g.56446282T>C NCBI36
NG_007076.1:g.5962A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.108-35A>G
ENST00000713544.1:c.196-35A>G ENSP00000518840.1:n.196-35A>G
ENST00000713545.1:c.196-35A>G ENSP00000518841.1:n.196-35A>G
ENST00000228606.9:c.196-35A>G MANE Select ENSP00000228606.4:n.196-35A>G
ENST00000228606.8:c.196-35A>G ENSP00000228606.4:n.196-35A>G
ENST00000546496.1:n.24-35A>G
ENST00000546609.1:c.108-35A>G
ENST00000547344.5:n.250-35A>G
ENST00000552186.1:n.280A>G
NM_000785.3:c.196-35A>G NP_000776.1:n.196-35A>G
NM_000785.4:c.196-35A>G MANE Select NP_000776.1:n.196-35A>G