Canonical Allele Identifier: CA2619519118

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765983-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765983C>T , CM000674.2:g.57765983C>T	GRCh38
NC_000012.11:g.58159766C>T , CM000674.1:g.58159766C>T	GRCh37
NC_000012.10:g.56446033C>T	NCBI36
NG_007076.1:g.6211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.298+24G>A
ENST00000713544.1:c.386+24G>A	ENSP00000518840.1:n.386+24G>A
ENST00000713545.1:c.386+24G>A	ENSP00000518841.1:n.386+24G>A
ENST00000228606.9:c.386+24G>A MANE Select	ENSP00000228606.4:n.386+24G>A
ENST00000228606.8:c.386+24G>A	ENSP00000228606.4:n.386+24G>A
ENST00000546496.1:n.214+24G>A
ENST00000546609.1:c.298+24G>A
ENST00000547344.5:n.440+24G>A
ENST00000552186.1:n.505+24G>A
NM_000785.3:c.386+24G>A	NP_000776.1:n.386+24G>A
NM_000785.4:c.386+24G>A MANE Select	NP_000776.1:n.386+24G>A