Canonical Allele Identifier: CA385507633
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766025G>A , CM000674.2:g.57766025G>A GRCh38
NC_000012.11:g.58159808G>A , CM000674.1:g.58159808G>A GRCh37
NC_000012.10:g.56446075G>A NCBI36
NG_007076.1:g.6169C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000546609.2:n.280C>T
ENST00000713544.1:c.368C>T ENSP00000518840.1:p.Ala123Val
ENST00000713545.1:c.368C>T ENSP00000518841.1:p.Ala123Val
ENST00000228606.9:c.368C>T MANE Select ENSP00000228606.4:p.Ala123Val
ENST00000228606.8:c.368C>T ENSP00000228606.4:p.Ala123Val
ENST00000546496.1:n.196C>T
ENST00000546609.1:c.280C>T
ENST00000547344.5:n.422C>T
ENST00000552186.1:n.487C>T
NM_000785.3:c.368C>T NP_000776.1:p.Ala123Val
NM_000785.4:c.368C>T MANE Select NP_000776.1:p.Ala123Val