Canonical Allele Identifier: CA237817971

Gene: CYP27B1

Linked Data

• dbSNP Id: rs189557481
• gnomAD v3: 12-57766497-G-C
• gnomAD v4: 12-57766497-G-C
• MyVariant Identifiers: chr12:g.58160280G>C (hg19) ; chr12:g.57766497G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766497G>C , CM000674.2:g.57766497G>C	GRCh38
NC_000012.11:g.58160280G>C , CM000674.1:g.58160280G>C	GRCh37
NC_000012.10:g.56446547G>C	NCBI36
NG_007076.1:g.5697C>G
NG_047060.1:g.10635C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-300C>G
ENST00000713544.1:c.196-300C>G	ENSP00000518840.1:n.196-300C>G
ENST00000713545.1:c.196-300C>G	ENSP00000518841.1:n.196-300C>G
ENST00000228606.9:c.196-300C>G MANE Select	ENSP00000228606.4:n.196-300C>G
ENST00000228606.8:c.196-300C>G	ENSP00000228606.4:n.196-300C>G
ENST00000546609.1:c.108-300C>G
ENST00000547344.5:n.250-300C>G
ENST00000552186.1:n.15C>G
NM_000785.3:c.196-300C>G	NP_000776.1:n.196-300C>G
NM_000785.4:c.196-300C>G MANE Select	NP_000776.1:n.196-300C>G