Canonical Allele Identifier: CA605706853

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1300175350
• gnomAD v2: 12-58159033-C-G
• gnomAD v3: 12-57765250-C-G
• gnomAD v4: 12-57765250-C-G
• MyVariant Identifiers: chr12:g.58159033C>G (hg19) ; chr12:g.57765250C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765250C>G , CM000674.2:g.57765250C>G	GRCh38
NC_000012.11:g.58159033C>G , CM000674.1:g.58159033C>G	GRCh37
NC_000012.10:g.56445300C>G	NCBI36
NG_007076.1:g.6944G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.502-39G>C
ENST00000713544.1:c.671-39G>C	ENSP00000518840.1:n.671-39G>C
ENST00000713545.1:c.648-39G>C	ENSP00000518841.1:n.648-39G>C
ENST00000228606.9:c.590-39G>C MANE Select	ENSP00000228606.4:n.590-39G>C
ENST00000228606.8:c.590-39G>C	ENSP00000228606.4:n.590-39G>C
ENST00000546567.5:c.-116-39G>C	ENSP00000449472.1:n.-116-39G>C
ENST00000546609.1:c.502-39G>C
ENST00000547344.5:n.690G>C
ENST00000547451.1:n.390-39G>C
NM_000785.3:c.590-39G>C	NP_000776.1:n.590-39G>C
NM_000785.4:c.590-39G>C MANE Select	NP_000776.1:n.590-39G>C