Canonical Allele Identifier: CA605325270

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1295478192
• gnomAD v2: 12-58159412-A-C
• gnomAD v3: 12-57765629-A-C
• gnomAD v4: 12-57765629-A-C
• MyVariant Identifiers: chr12:g.58159412A>C (hg19) ; chr12:g.57765629A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765629A>C , CM000674.2:g.57765629A>C	GRCh38
NC_000012.11:g.58159412A>C , CM000674.1:g.58159412A>C	GRCh37
NC_000012.10:g.56445679A>C	NCBI36
NG_007076.1:g.6565T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-130T>G
ENST00000713544.1:c.387-49T>G	ENSP00000518840.1:n.387-49T>G
ENST00000713545.1:c.387-72T>G	ENSP00000518841.1:n.387-72T>G
ENST00000228606.9:c.387-130T>G MANE Select	ENSP00000228606.4:n.387-130T>G
ENST00000228606.8:c.387-130T>G	ENSP00000228606.4:n.387-130T>G
ENST00000546496.1:n.215-130T>G
ENST00000546567.5:c.-449T>G	ENSP00000449472.1:n.-449T>G
ENST00000546609.1:c.299-130T>G
ENST00000547344.5:n.441-130T>G
ENST00000547451.1:n.57T>G
ENST00000552186.1:n.506-130T>G
NM_000785.3:c.387-130T>G	NP_000776.1:n.387-130T>G
NM_000785.4:c.387-130T>G MANE Select	NP_000776.1:n.387-130T>G