Canonical Allele Identifier: CA385507579
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766016A>G , CM000674.2:g.57766016A>G GRCh38
NC_000012.11:g.58159799A>G , CM000674.1:g.58159799A>G GRCh37
NC_000012.10:g.56446066A>G NCBI36
NG_007076.1:g.6178T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.289T>C
ENST00000713544.1:c.377T>C ENSP00000518840.1:p.Leu126Pro
ENST00000713545.1:c.377T>C ENSP00000518841.1:p.Leu126Pro
ENST00000228606.9:c.377T>C MANE Select ENSP00000228606.4:p.Leu126Pro
ENST00000228606.8:c.377T>C ENSP00000228606.4:p.Leu126Pro
ENST00000546496.1:n.205T>C
ENST00000546609.1:c.289T>C
ENST00000547344.5:n.431T>C
ENST00000552186.1:n.496T>C
NM_000785.3:c.377T>C NP_000776.1:p.Leu126Pro
NM_000785.4:c.377T>C MANE Select NP_000776.1:p.Leu126Pro