Canonical Allele Identifier: CA605325355

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1190864365
• gnomAD v2: 12-58159534-T-A
• gnomAD v3: 12-57765751-T-A
• gnomAD v4: 12-57765751-T-A
• MyVariant Identifiers: chr12:g.58159534T>A (hg19) ; chr12:g.57765751T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765751T>A , CM000674.2:g.57765751T>A	GRCh38
NC_000012.11:g.58159534T>A , CM000674.1:g.58159534T>A	GRCh37
NC_000012.10:g.56445801T>A	NCBI36
NG_007076.1:g.6443A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-252A>T
ENST00000713544.1:c.387-171A>T	ENSP00000518840.1:n.387-171A>T
ENST00000713545.1:c.387-194A>T	ENSP00000518841.1:n.387-194A>T
ENST00000228606.9:c.387-252A>T MANE Select	ENSP00000228606.4:n.387-252A>T
ENST00000228606.8:c.387-252A>T	ENSP00000228606.4:n.387-252A>T
ENST00000546496.1:n.215-252A>T
ENST00000546609.1:c.299-252A>T
ENST00000547344.5:n.441-252A>T
ENST00000552186.1:n.506-252A>T
NM_000785.3:c.387-252A>T	NP_000776.1:n.387-252A>T
NM_000785.4:c.387-252A>T MANE Select	NP_000776.1:n.387-252A>T