Canonical Allele Identifier: CA2726349411

Gene: CYP27B1

Linked Data

• dbSNP Id: rs2140396066

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763577A>G , CM000674.2:g.57763577A>G	GRCh38
NC_000012.11:g.58157360A>G , CM000674.1:g.58157360A>G	GRCh37
NC_000012.10:g.56443627A>G	NCBI36
NG_007076.1:g.8617T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1494+34T>C	ENSP00000518840.1:n.1494+34T>C
ENST00000713545.1:c.*418+34T>C	ENSP00000518841.1:n.*418+34T>C
ENST00000228606.9:c.1413+34T>C MANE Select	ENSP00000228606.4:n.1413+34T>C
ENST00000228606.8:c.1413+34T>C	ENSP00000228606.4:n.1413+34T>C
ENST00000547344.5:n.1552+34T>C
NM_000785.3:c.1413+34T>C	NP_000776.1:n.1413+34T>C
NM_000785.4:c.1413+34T>C MANE Select	NP_000776.1:n.1413+34T>C