Canonical Allele Identifier: CA2038987241
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1955340291
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764218del , CM000674.2:g.57764218del GRCh38
NC_000012.11:g.58158001del , CM000674.1:g.58158001del GRCh37
NC_000012.10:g.56444268del NCBI36
NG_007076.1:g.7976del

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1218-42del ENSP00000518840.1:n.1218-42del
ENST00000713545.1:c.*142-42del ENSP00000518841.1:n.*142-42del
ENST00000228606.9:c.1137-42del MANE Select ENSP00000228606.4:n.1137-42del
ENST00000228606.8:c.1137-42del ENSP00000228606.4:n.1137-42del
ENST00000546567.5:c.432-42del ENSP00000449472.1:n.432-42del
ENST00000547344.5:n.1276-42del
NM_000785.3:c.1137-42del NP_000776.1:n.1137-42del
NM_000785.4:c.1137-42del MANE Select NP_000776.1:n.1137-42del
Search 100 bp 5'
Search 100 bp 3'