Canonical Allele Identifier: CA385505322
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765109G>C , CM000674.2:g.57765109G>C GRCh38
NC_000012.11:g.58158892G>C , CM000674.1:g.58158892G>C GRCh37
NC_000012.10:g.56445159G>C NCBI36
NG_007076.1:g.7085C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000546609.2:n.604C>G
ENST00000713544.1:c.773C>G ENSP00000518840.1:p.Ser258Cys
ENST00000713545.1:c.750C>G ENSP00000518841.1:p.Val250=
ENST00000228606.9:c.692C>G MANE Select ENSP00000228606.4:p.Ser231Cys
ENST00000228606.8:c.692C>G ENSP00000228606.4:p.Ser231Cys
ENST00000546567.5:c.-14C>G ENSP00000449472.1:n.-14C>G
ENST00000546609.1:c.604C>G
ENST00000547344.5:n.831C>G
ENST00000547451.1:n.492C>G
NM_000785.3:c.692C>G NP_000776.1:p.Ser231Cys
NM_000785.4:c.692C>G MANE Select NP_000776.1:p.Ser231Cys