Canonical Allele Identifier: CA237814896

Gene: CYP27B1

Linked Data

• dbSNP Id: rs974435159
• gnomAD v4: 12-57765142-G-T
• MyVariant Identifiers: chr12:g.58158925G>T (hg19) ; chr12:g.57765142G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765142G>T , CM000674.2:g.57765142G>T	GRCh38
NC_000012.11:g.58158925G>T , CM000674.1:g.58158925G>T	GRCh37
NC_000012.10:g.56445192G>T	NCBI36
NG_007076.1:g.7052C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.571C>A
ENST00000713544.1:c.740C>A	ENSP00000518840.1:p.Thr247Asn
ENST00000713545.1:c.717C>A	ENSP00000518841.1:p.Asp239Glu
ENST00000228606.9:c.659C>A MANE Select	ENSP00000228606.4:p.Thr220Asn
ENST00000228606.8:c.659C>A	ENSP00000228606.4:p.Thr220Asn
ENST00000546567.5:c.-47C>A	ENSP00000449472.1:n.-47C>A
ENST00000546609.1:c.571C>A
ENST00000547344.5:n.798C>A
ENST00000547451.1:n.459C>A
NM_000785.3:c.659C>A	NP_000776.1:p.Thr220Asn
NM_000785.4:c.659C>A MANE Select	NP_000776.1:p.Thr220Asn