Canonical Allele Identifier: CA385507619
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766022C>G , CM000674.2:g.57766022C>G GRCh38
NC_000012.11:g.58159805C>G , CM000674.1:g.58159805C>G GRCh37
NC_000012.10:g.56446072C>G NCBI36
NG_007076.1:g.6172G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.283G>C
ENST00000713544.1:c.371G>C ENSP00000518840.1:p.Cys124Ser
ENST00000713545.1:c.371G>C ENSP00000518841.1:p.Cys124Ser
ENST00000228606.9:c.371G>C MANE Select ENSP00000228606.4:p.Cys124Ser
ENST00000228606.8:c.371G>C ENSP00000228606.4:p.Cys124Ser
ENST00000546496.1:n.199G>C
ENST00000546609.1:c.283G>C
ENST00000547344.5:n.425G>C
ENST00000552186.1:n.490G>C
NM_000785.3:c.371G>C NP_000776.1:p.Cys124Ser
NM_000785.4:c.371G>C MANE Select NP_000776.1:p.Cys124Ser