Canonical Allele Identifier: CA385503598
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764447C>A , CM000674.2:g.57764447C>A GRCh38
NC_000012.11:g.58158230C>A , CM000674.1:g.58158230C>A GRCh37
NC_000012.10:g.56444497C>A NCBI36
NG_007076.1:g.7747G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1148G>T ENSP00000518840.1:p.Ser383Ile
ENST00000713545.1:c.*72G>T ENSP00000518841.1:n.*72G>T
ENST00000228606.9:c.1067G>T MANE Select ENSP00000228606.4:p.Ser356Ile
ENST00000228606.8:c.1067G>T ENSP00000228606.4:p.Ser356Ile
ENST00000546567.5:c.362G>T ENSP00000449472.1:p.Ser121Ile
ENST00000547344.5:n.1206G>T
NM_000785.3:c.1067G>T NP_000776.1:p.Ser356Ile
NM_000785.4:c.1067G>T MANE Select NP_000776.1:p.Ser356Ile