Canonical Allele Identifier: CA6658272
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs539747491
ExAC: 12:58158442 T / C
gnomAD v2: 12-58158442-T-C
gnomAD v3: 12-57764659-T-C
gnomAD v4: 12-57764659-T-C
MyVariant Identifiers: chr12:g.58158442T>C (hg19) chr12:g.57764659T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764659T>C , CM000674.2:g.57764659T>C GRCh38
NC_000012.11:g.58158442T>C , CM000674.1:g.58158442T>C GRCh37
NC_000012.10:g.56444709T>C NCBI36
NG_007076.1:g.7535A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1044+95A>G ENSP00000518840.1:n.1044+95A>G
ENST00000713545.1:c.1021+95A>G ENSP00000518841.1:n.1021+95A>G
ENST00000228606.9:c.963+95A>G MANE Select ENSP00000228606.4:n.963+95A>G
ENST00000228606.8:c.963+95A>G ENSP00000228606.4:n.963+95A>G
ENST00000546567.5:c.258+95A>G ENSP00000449472.1:n.258+95A>G
ENST00000547344.5:n.1102+95A>G
ENST00000547451.1:n.858A>G
NM_000785.3:c.963+95A>G NP_000776.1:n.963+95A>G
NM_000785.4:c.963+95A>G MANE Select NP_000776.1:n.963+95A>G
Search 100 bp 5'
Search 100 bp 3'