Canonical Allele Identifier: CA237814035
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs561951133

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764241T>C , CM000674.2:g.57764241T>C GRCh38
NC_000012.11:g.58158024T>C , CM000674.1:g.58158024T>C GRCh37
NC_000012.10:g.56444291T>C NCBI36
NG_007076.1:g.7953A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1218-65A>G ENSP00000518840.1:n.1218-65A>G
ENST00000713545.1:c.*142-65A>G ENSP00000518841.1:n.*142-65A>G
ENST00000228606.9:c.1137-65A>G MANE Select ENSP00000228606.4:n.1137-65A>G
ENST00000228606.8:c.1137-65A>G ENSP00000228606.4:n.1137-65A>G
ENST00000546567.5:c.432-65A>G ENSP00000449472.1:n.432-65A>G
ENST00000547344.5:n.1276-65A>G
NM_000785.3:c.1137-65A>G NP_000776.1:n.1137-65A>G
NM_000785.4:c.1137-65A>G MANE Select NP_000776.1:n.1137-65A>G