Canonical Allele Identifier: CA690330164
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1405544326
gnomAD v3: 12-57764657-C-T
gnomAD v4: 12-57764657-C-T
MyVariant Identifiers: chr12:g.58158440C>T (hg19) chr12:g.57764657C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764657C>T , CM000674.2:g.57764657C>T GRCh38
NC_000012.11:g.58158440C>T , CM000674.1:g.58158440C>T GRCh37
NC_000012.10:g.56444707C>T NCBI36
NG_007076.1:g.7537G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1044+97G>A ENSP00000518840.1:n.1044+97G>A
ENST00000713545.1:c.1021+97G>A ENSP00000518841.1:n.1021+97G>A
ENST00000228606.9:c.963+97G>A MANE Select ENSP00000228606.4:n.963+97G>A
ENST00000228606.8:c.963+97G>A ENSP00000228606.4:n.963+97G>A
ENST00000546567.5:c.258+97G>A ENSP00000449472.1:n.258+97G>A
ENST00000547344.5:n.1102+97G>A
ENST00000547451.1:n.860G>A
NM_000785.3:c.963+97G>A NP_000776.1:n.963+97G>A
NM_000785.4:c.963+97G>A MANE Select NP_000776.1:n.963+97G>A
Search 100 bp 5'
Search 100 bp 3'