Canonical Allele Identifier: CA115131
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1666
ClinVar RCV Id: RCV000001733
dbSNP Id: rs118204007

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764755G>C , CM000674.2:g.57764755G>C GRCh38
NC_000012.11:g.58158538G>C , CM000674.1:g.58158538G>C GRCh37
NC_000012.10:g.56444805G>C NCBI36
NG_007076.1:g.7439C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1043C>G ENSP00000518840.1:p.Thr348Arg
ENST00000713545.1:c.1020C>G ENSP00000518841.1:p.His340Gln
ENST00000228606.9:c.962C>G MANE Select ENSP00000228606.4:p.Thr321Arg
ENST00000228606.8:c.962C>G ENSP00000228606.4:p.Thr321Arg
ENST00000546567.5:c.257C>G ENSP00000449472.1:p.Thr86Arg
ENST00000547344.5:n.1101C>G
ENST00000547451.1:n.762C>G
NM_000785.3:c.962C>G NP_000776.1:p.Thr321Arg
NM_000785.4:c.962C>G MANE Select NP_000776.1:p.Thr321Arg