Canonical Allele Identifier: CA6658204
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs370198750

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764200A>G , CM000674.2:g.57764200A>G GRCh38
NC_000012.11:g.58157983A>G , CM000674.1:g.58157983A>G GRCh37
NC_000012.10:g.56444250A>G NCBI36
NG_007076.1:g.7994T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1218-24T>C ENSP00000518840.1:n.1218-24T>C
ENST00000713545.1:c.*142-24T>C ENSP00000518841.1:n.*142-24T>C
ENST00000228606.9:c.1137-24T>C MANE Select ENSP00000228606.4:n.1137-24T>C
ENST00000228606.8:c.1137-24T>C ENSP00000228606.4:n.1137-24T>C
ENST00000546567.5:c.432-24T>C ENSP00000449472.1:n.432-24T>C
ENST00000547344.5:n.1276-24T>C
NM_000785.3:c.1137-24T>C NP_000776.1:n.1137-24T>C
NM_000785.4:c.1137-24T>C MANE Select NP_000776.1:n.1137-24T>C