Canonical Allele Identifier: CA385502260

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58157879A>T (hg19) ; chr12:g.57764096A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764096A>T , CM000674.2:g.57764096A>T	GRCh38
NC_000012.11:g.58157879A>T , CM000674.1:g.58157879A>T	GRCh37
NC_000012.10:g.56444146A>T	NCBI36
NG_007076.1:g.8098T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000713544.1:c.1296+2T>A	ENSP00000518840.1:n.1296+2T>A
ENST00000713545.1:c.*220+2T>A	ENSP00000518841.1:n.*220+2T>A
ENST00000228606.9:c.1215+2T>A MANE Select	ENSP00000228606.4:n.1215+2T>A
ENST00000228606.8:c.1215+2T>A	ENSP00000228606.4:n.1215+2T>A
ENST00000547344.5:n.1354+2T>A
NM_000785.3:c.1215+2T>A	NP_000776.1:n.1215+2T>A
NM_000785.4:c.1215+2T>A MANE Select	NP_000776.1:n.1215+2T>A