Canonical Allele Identifier: CA385504094

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158324T>A (hg19) ; chr12:g.57764541T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764541T>A , CM000674.2:g.57764541T>A	GRCh38
NC_000012.11:g.58158324T>A , CM000674.1:g.58158324T>A	GRCh37
NC_000012.10:g.56444591T>A	NCBI36
NG_007076.1:g.7653A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1054A>T	ENSP00000518840.1:p.Thr352Ser
ENST00000713545.1:c.1031A>T	ENSP00000518841.1:p.His344Leu
ENST00000228606.9:c.973A>T MANE Select	ENSP00000228606.4:p.Thr325Ser
ENST00000228606.8:c.973A>T	ENSP00000228606.4:p.Thr325Ser
ENST00000546567.5:c.268A>T	ENSP00000449472.1:p.Thr90Ser
ENST00000547344.5:n.1112A>T
NM_000785.3:c.973A>T	NP_000776.1:p.Thr325Ser
NM_000785.4:c.973A>T MANE Select	NP_000776.1:p.Thr325Ser