Canonical Allele Identifier: CA6658244
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs28934606

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764510C>T , CM000674.2:g.57764510C>T GRCh38
NC_000012.11:g.58158293C>T , CM000674.1:g.58158293C>T GRCh37
NC_000012.10:g.56444560C>T NCBI36
NG_007076.1:g.7684G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000228606.9:c.1004G>A MANE Select ENSP00000228606.4:p.Arg335Gln
ENST00000228606.8:c.1004G>A ENSP00000228606.4:p.Arg335Gln
ENST00000546567.5:c.299G>A ENSP00000449472.1:p.Arg100Gln
ENST00000547344.5:n.1143G>A
NM_000785.3:c.1004G>A NP_000776.1:p.Arg335Gln
NM_000785.4:c.1004G>A MANE Select NP_000776.1:p.Arg335Gln