Canonical Allele Identifier: CA385507752
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs2140397628
gnomAD v4: 12-57766046-T-G
MyVariant Identifiers: chr12:g.58159829T>G (hg19) chr12:g.57766046T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766046T>G , CM000674.2:g.57766046T>G GRCh38
NC_000012.11:g.58159829T>G , CM000674.1:g.58159829T>G GRCh37
NC_000012.10:g.56446096T>G NCBI36
NG_007076.1:g.6148A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.259A>C
ENST00000713544.1:c.347A>C ENSP00000518840.1:p.His116Pro
ENST00000713545.1:c.347A>C ENSP00000518841.1:p.His116Pro
ENST00000228606.9:c.347A>C MANE Select ENSP00000228606.4:p.His116Pro
ENST00000228606.8:c.347A>C ENSP00000228606.4:p.His116Pro
ENST00000546496.1:n.175A>C
ENST00000546609.1:c.259A>C
ENST00000547344.5:n.401A>C
ENST00000552186.1:n.466A>C
NM_000785.3:c.347A>C NP_000776.1:p.His116Pro
NM_000785.4:c.347A>C MANE Select NP_000776.1:p.His116Pro
Search 100 bp 5'
Search 100 bp 3'