Canonical Allele Identifier: CA385503760
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764472T>G , CM000674.2:g.57764472T>G GRCh38
NC_000012.11:g.58158255T>G , CM000674.1:g.58158255T>G GRCh37
NC_000012.10:g.56444522T>G NCBI36
NG_007076.1:g.7722A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1123A>C ENSP00000518840.1:p.Thr375Pro
ENST00000713545.1:c.*47A>C ENSP00000518841.1:n.*47A>C
ENST00000228606.9:c.1042A>C MANE Select ENSP00000228606.4:p.Thr348Pro
ENST00000228606.8:c.1042A>C ENSP00000228606.4:p.Thr348Pro
ENST00000546567.5:c.337A>C ENSP00000449472.1:p.Thr113Pro
ENST00000547344.5:n.1181A>C
NM_000785.3:c.1042A>C NP_000776.1:p.Thr348Pro
NM_000785.4:c.1042A>C MANE Select NP_000776.1:p.Thr348Pro