Canonical Allele Identifier: CA605706847

Gene: CYP27B1

Linked Data

• dbSNP Id: rs781643975
• gnomAD v2: 12-58159020-G-A
• gnomAD v4: 12-57765237-G-A
• MyVariant Identifiers: chr12:g.58159020G>A (hg19) ; chr12:g.57765237G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765237G>A , CM000674.2:g.57765237G>A	GRCh38
NC_000012.11:g.58159020G>A , CM000674.1:g.58159020G>A	GRCh37
NC_000012.10:g.56445287G>A	NCBI36
NG_007076.1:g.6957C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.502-26C>T
ENST00000713544.1:c.671-26C>T	ENSP00000518840.1:n.671-26C>T
ENST00000713545.1:c.648-26C>T	ENSP00000518841.1:n.648-26C>T
ENST00000228606.9:c.590-26C>T MANE Select	ENSP00000228606.4:n.590-26C>T
ENST00000228606.8:c.590-26C>T	ENSP00000228606.4:n.590-26C>T
ENST00000546567.5:c.-116-26C>T	ENSP00000449472.1:n.-116-26C>T
ENST00000546609.1:c.502-26C>T
ENST00000547344.5:n.703C>T
ENST00000547451.1:n.390-26C>T
NM_000785.3:c.590-26C>T	NP_000776.1:n.590-26C>T
NM_000785.4:c.590-26C>T MANE Select	NP_000776.1:n.590-26C>T