Canonical Allele Identifier: CA2619515159

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57763987-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763987A>T , CM000674.2:g.57763987A>T	GRCh38
NC_000012.11:g.58157770A>T , CM000674.1:g.58157770A>T	GRCh37
NC_000012.10:g.56444037A>T	NCBI36
NG_007076.1:g.8207T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000713544.1:c.1296+111T>A	ENSP00000518840.1:n.1296+111T>A
ENST00000713545.1:c.*220+111T>A	ENSP00000518841.1:n.*220+111T>A
ENST00000228606.9:c.1215+111T>A MANE Select	ENSP00000228606.4:n.1215+111T>A
ENST00000228606.8:c.1215+111T>A	ENSP00000228606.4:n.1215+111T>A
ENST00000547344.5:n.1354+111T>A
NM_000785.3:c.1215+111T>A	NP_000776.1:n.1215+111T>A
NM_000785.4:c.1215+111T>A MANE Select	NP_000776.1:n.1215+111T>A