Canonical Allele Identifier: CA237817968

Gene: CYP27B1

Linked Data

• dbSNP Id: rs966012919
• gnomAD v3: 12-57766493-C-G
• gnomAD v4: 12-57766493-C-G
• MyVariant Identifiers: chr12:g.58160276C>G (hg19) ; chr12:g.57766493C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766493C>G , CM000674.2:g.57766493C>G	GRCh38
NC_000012.11:g.58160276C>G , CM000674.1:g.58160276C>G	GRCh37
NC_000012.10:g.56446543C>G	NCBI36
NG_007076.1:g.5701G>C
NG_047060.1:g.10639G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-296G>C
ENST00000713544.1:c.196-296G>C	ENSP00000518840.1:n.196-296G>C
ENST00000713545.1:c.196-296G>C	ENSP00000518841.1:n.196-296G>C
ENST00000228606.9:c.196-296G>C MANE Select	ENSP00000228606.4:n.196-296G>C
ENST00000228606.8:c.196-296G>C	ENSP00000228606.4:n.196-296G>C
ENST00000546609.1:c.108-296G>C
ENST00000547344.5:n.250-296G>C
ENST00000552186.1:n.19G>C
NM_000785.3:c.196-296G>C	NP_000776.1:n.196-296G>C
NM_000785.4:c.196-296G>C MANE Select	NP_000776.1:n.196-296G>C