Canonical Allele Identifier: CA385505247

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1955347654
• gnomAD v3: 12-57765071-G-T
• gnomAD v4: 12-57765071-G-T
• MyVariant Identifiers: chr12:g.58158854G>T (hg19) ; chr12:g.57765071G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765071G>T , CM000674.2:g.57765071G>T	GRCh38
NC_000012.11:g.58158854G>T , CM000674.1:g.58158854G>T	GRCh37
NC_000012.10:g.56445121G>T	NCBI36
NG_007076.1:g.7123C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.642C>A
ENST00000713544.1:c.811C>A	ENSP00000518840.1:p.His271Asn
ENST00000713545.1:c.788C>A	ENSP00000518841.1:p.Pro263Gln
ENST00000228606.9:c.730C>A MANE Select	ENSP00000228606.4:p.His244Asn
ENST00000228606.8:c.730C>A	ENSP00000228606.4:p.His244Asn
ENST00000546567.5:c.25C>A	ENSP00000449472.1:p.His9Asn
ENST00000546609.1:c.642C>A
ENST00000547344.5:n.869C>A
ENST00000547451.1:n.530C>A
NM_000785.3:c.730C>A	NP_000776.1:p.His244Asn
NM_000785.4:c.730C>A MANE Select	NP_000776.1:p.His244Asn