Canonical Allele Identifier: CA2619517079

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765262-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765262C>A , CM000674.2:g.57765262C>A	GRCh38
NC_000012.11:g.58159045C>A , CM000674.1:g.58159045C>A	GRCh37
NC_000012.10:g.56445312C>A	NCBI36
NG_007076.1:g.6932G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.501+35G>T
ENST00000713544.1:c.670+35G>T	ENSP00000518840.1:n.670+35G>T
ENST00000713545.1:c.647+35G>T	ENSP00000518841.1:n.647+35G>T
ENST00000228606.9:c.589+35G>T MANE Select	ENSP00000228606.4:n.589+35G>T
ENST00000228606.8:c.589+35G>T	ENSP00000228606.4:n.589+35G>T
ENST00000546567.5:c.-117+35G>T	ENSP00000449472.1:n.-117+35G>T
ENST00000546609.1:c.501+35G>T
ENST00000547344.5:n.678G>T
ENST00000547451.1:n.389+35G>T
NM_000785.3:c.589+35G>T	NP_000776.1:n.589+35G>T
NM_000785.4:c.589+35G>T MANE Select	NP_000776.1:n.589+35G>T