Canonical Allele Identifier: CA385503455

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158213T>A (hg19) ; chr12:g.57764430T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764430T>A , CM000674.2:g.57764430T>A	GRCh38
NC_000012.11:g.58158213T>A , CM000674.1:g.58158213T>A	GRCh37
NC_000012.10:g.56444480T>A	NCBI36
NG_007076.1:g.7764A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1165A>T	ENSP00000518840.1:p.Thr389Ser
ENST00000713545.1:c.*89A>T	ENSP00000518841.1:n.*89A>T
ENST00000228606.9:c.1084A>T MANE Select	ENSP00000228606.4:p.Thr362Ser
ENST00000228606.8:c.1084A>T	ENSP00000228606.4:p.Thr362Ser
ENST00000546567.5:c.379A>T	ENSP00000449472.1:p.Thr127Ser
ENST00000547344.5:n.1223A>T
NM_000785.3:c.1084A>T	NP_000776.1:p.Thr362Ser
NM_000785.4:c.1084A>T MANE Select	NP_000776.1:p.Thr362Ser