Canonical Allele Identifier: CA385509398

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1955358924
• gnomAD v4: 12-57766154-A-G
• MyVariant Identifiers: chr12:g.58159937A>G (hg19) ; chr12:g.57766154A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766154A>G , CM000674.2:g.57766154A>G	GRCh38
NC_000012.11:g.58159937A>G , CM000674.1:g.58159937A>G	GRCh37
NC_000012.10:g.56446204A>G	NCBI36
NG_007076.1:g.6040T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.151T>C
ENST00000713544.1:c.239T>C	ENSP00000518840.1:p.Phe80Ser
ENST00000713545.1:c.239T>C	ENSP00000518841.1:p.Phe80Ser
ENST00000228606.9:c.239T>C MANE Select	ENSP00000228606.4:p.Phe80Ser
ENST00000228606.8:c.239T>C	ENSP00000228606.4:p.Phe80Ser
ENST00000546496.1:n.67T>C
ENST00000546609.1:c.151T>C
ENST00000547344.5:n.293T>C
ENST00000552186.1:n.358T>C
NM_000785.3:c.239T>C	NP_000776.1:p.Phe80Ser
NM_000785.4:c.239T>C MANE Select	NP_000776.1:p.Phe80Ser