Canonical Allele Identifier: CA6658210

Gene: CYP27B1

Linked Data

• dbSNP Id: rs759844657
• ExAC: 12:58158113 A / G
• gnomAD v2: 12-58158113-A-G
• gnomAD v4: 12-57764330-A-G
• MyVariant Identifiers: chr12:g.58158113A>G (hg19) ; chr12:g.57764330A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764330A>G , CM000674.2:g.57764330A>G	GRCh38
NC_000012.11:g.58158113A>G , CM000674.1:g.58158113A>G	GRCh37
NC_000012.10:g.56444380A>G	NCBI36
NG_007076.1:g.7864T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1217+48T>C	ENSP00000518840.1:n.1217+48T>C
ENST00000713545.1:c.*141+48T>C	ENSP00000518841.1:n.*141+48T>C
ENST00000228606.9:c.1136+48T>C MANE Select	ENSP00000228606.4:n.1136+48T>C
ENST00000228606.8:c.1136+48T>C	ENSP00000228606.4:n.1136+48T>C
ENST00000546567.5:c.431+48T>C	ENSP00000449472.1:n.431+48T>C
ENST00000547344.5:n.1275+48T>C
NM_000785.3:c.1136+48T>C	NP_000776.1:n.1136+48T>C
NM_000785.4:c.1136+48T>C MANE Select	NP_000776.1:n.1136+48T>C