Canonical Allele Identifier: CA385505246

Gene: CYP27B1

Linked Data

• MyVariant Identifiers: chr12:g.58158854G>C (hg19) ; chr12:g.57765071G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.642C>G
ENST00000713544.1:c.811C>G	ENSP00000518840.1:p.His271Asp
ENST00000713545.1:c.788C>G	ENSP00000518841.1:p.Pro263Arg
ENST00000228606.9:c.730C>G MANE Select	ENSP00000228606.4:p.His244Asp
ENST00000228606.8:c.730C>G	ENSP00000228606.4:p.His244Asp
ENST00000546567.5:c.25C>G	ENSP00000449472.1:p.His9Asp
ENST00000546609.1:c.642C>G
ENST00000547344.5:n.869C>G
ENST00000547451.1:n.530C>G
NM_000785.3:c.730C>G	NP_000776.1:p.His244Asp
NM_000785.4:c.730C>G MANE Select	NP_000776.1:p.His244Asp