Canonical Allele Identifier: CA237817957

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1054280320
• gnomAD v3: 12-57766477-T-C
• gnomAD v4: 12-57766477-T-C
• MyVariant Identifiers: chr12:g.58160260T>C (hg19) ; chr12:g.57766477T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766477T>C , CM000674.2:g.57766477T>C	GRCh38
NC_000012.11:g.58160260T>C , CM000674.1:g.58160260T>C	GRCh37
NC_000012.10:g.56446527T>C	NCBI36
NG_007076.1:g.5717A>G
NG_047060.1:g.10655A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-280A>G
ENST00000713544.1:c.196-280A>G	ENSP00000518840.1:n.196-280A>G
ENST00000713545.1:c.196-280A>G	ENSP00000518841.1:n.196-280A>G
ENST00000228606.9:c.196-280A>G MANE Select	ENSP00000228606.4:n.196-280A>G
ENST00000228606.8:c.196-280A>G	ENSP00000228606.4:n.196-280A>G
ENST00000546609.1:c.108-280A>G
ENST00000547344.5:n.250-280A>G
ENST00000552186.1:n.35A>G
NM_000785.3:c.196-280A>G	NP_000776.1:n.196-280A>G
NM_000785.4:c.196-280A>G MANE Select	NP_000776.1:n.196-280A>G