Canonical Allele Identifier: CA6658185
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs764004209

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764083A>C , CM000674.2:g.57764083A>C GRCh38
NC_000012.11:g.58157866A>C , CM000674.1:g.58157866A>C GRCh37
NC_000012.10:g.56444133A>C NCBI36
NG_007076.1:g.8111T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1296+15T>G ENSP00000518840.1:n.1296+15T>G
ENST00000713545.1:c.*220+15T>G ENSP00000518841.1:n.*220+15T>G
ENST00000228606.9:c.1215+15T>G MANE Select ENSP00000228606.4:n.1215+15T>G
ENST00000228606.8:c.1215+15T>G ENSP00000228606.4:n.1215+15T>G
ENST00000547344.5:n.1354+15T>G
NM_000785.3:c.1215+15T>G NP_000776.1:n.1215+15T>G
NM_000785.4:c.1215+15T>G MANE Select NP_000776.1:n.1215+15T>G