Canonical Allele Identifier: CA385502942
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764176T>G , CM000674.2:g.57764176T>G GRCh38
NC_000012.11:g.58157959T>G , CM000674.1:g.58157959T>G GRCh37
NC_000012.10:g.56444226T>G NCBI36
NG_007076.1:g.8018A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1218A>C ENSP00000518840.1:p.Arg406Ser
ENST00000713545.1:c.*142A>C ENSP00000518841.1:n.*142A>C
ENST00000228606.9:c.1137A>C MANE Select ENSP00000228606.4:p.Arg379Ser
ENST00000228606.8:c.1137A>C ENSP00000228606.4:p.Arg379Ser
ENST00000546567.5:c.432A>C ENSP00000449472.1:p.Arg144Ser
ENST00000547344.5:n.1276A>C
NM_000785.3:c.1137A>C NP_000776.1:p.Arg379Ser
NM_000785.4:c.1137A>C MANE Select NP_000776.1:p.Arg379Ser