Canonical Allele Identifier: CA385500755
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763650T>A , CM000674.2:g.57763650T>A GRCh38
NC_000012.11:g.58157433T>A , CM000674.1:g.58157433T>A GRCh37
NC_000012.10:g.56443700T>A NCBI36
NG_007076.1:g.8544A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1455A>T ENSP00000518840.1:p.Arg485Ser
ENST00000713545.1:c.*379A>T ENSP00000518841.1:n.*379A>T
ENST00000228606.9:c.1374A>T MANE Select ENSP00000228606.4:p.Arg458Ser
ENST00000228606.8:c.1374A>T ENSP00000228606.4:p.Arg458Ser
ENST00000547344.5:n.1513A>T
NM_000785.3:c.1374A>T NP_000776.1:p.Arg458Ser
NM_000785.4:c.1374A>T MANE Select NP_000776.1:p.Arg458Ser