Canonical Allele Identifier: CA385509493
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766170C>A , CM000674.2:g.57766170C>A GRCh38
NC_000012.11:g.58159953C>A , CM000674.1:g.58159953C>A GRCh37
NC_000012.10:g.56446220C>A NCBI36
NG_007076.1:g.6024G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.135G>T
ENST00000713544.1:c.223G>T ENSP00000518840.1:p.Val75Leu
ENST00000713545.1:c.223G>T ENSP00000518841.1:p.Val75Leu
ENST00000228606.9:c.223G>T MANE Select ENSP00000228606.4:p.Val75Leu
ENST00000228606.8:c.223G>T ENSP00000228606.4:p.Val75Leu
ENST00000546496.1:n.51G>T
ENST00000546609.1:c.135G>T
ENST00000547344.5:n.277G>T
ENST00000552186.1:n.342G>T
NM_000785.3:c.223G>T NP_000776.1:p.Val75Leu
NM_000785.4:c.223G>T MANE Select NP_000776.1:p.Val75Leu