Canonical Allele Identifier: CA480269227

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58157454G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763671G>T , CM000674.2:g.57763671G>T	GRCh38
NC_000012.11:g.58157454G>T , CM000674.1:g.58157454G>T	GRCh37
NC_000012.10:g.56443721G>T	NCBI36
NG_007076.1:g.8523C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1434C>A	ENSP00000518840.1:p.Gly478=
ENST00000713545.1:c.*358C>A	ENSP00000518841.1:n.*358C>A
ENST00000228606.9:c.1353C>A MANE Select	ENSP00000228606.4:p.Gly451=
ENST00000228606.8:c.1353C>A	ENSP00000228606.4:p.Gly451=
ENST00000547344.5:n.1492C>A
NM_000785.3:c.1353C>A	NP_000776.1:p.Gly451=
NM_000785.4:c.1353C>A MANE Select	NP_000776.1:p.Gly451=