Canonical Allele Identifier: CA385509562
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs921594300
gnomAD v4: 12-57766181-T-C
MyVariant Identifiers: chr12:g.58159964T>C (hg19) chr12:g.57766181T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766181T>C , CM000674.2:g.57766181T>C GRCh38
NC_000012.11:g.58159964T>C , CM000674.1:g.58159964T>C GRCh37
NC_000012.10:g.56446231T>C NCBI36
NG_007076.1:g.6013A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.124A>G
ENST00000713544.1:c.212A>G ENSP00000518840.1:p.His71Arg
ENST00000713545.1:c.212A>G ENSP00000518841.1:p.His71Arg
ENST00000228606.9:c.212A>G MANE Select ENSP00000228606.4:p.His71Arg
ENST00000228606.8:c.212A>G ENSP00000228606.4:p.His71Arg
ENST00000546496.1:n.40A>G
ENST00000546609.1:c.124A>G
ENST00000547344.5:n.266A>G
ENST00000552186.1:n.331A>G
NM_000785.3:c.212A>G NP_000776.1:p.His71Arg
NM_000785.4:c.212A>G MANE Select NP_000776.1:p.His71Arg
Search 100 bp 5'
Search 100 bp 3'