Canonical Allele Identifier: CA480269611
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58159918C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766135C>G , CM000674.2:g.57766135C>G GRCh38
NC_000012.11:g.58159918C>G , CM000674.1:g.58159918C>G GRCh37
NC_000012.10:g.56446185C>G NCBI36
NG_007076.1:g.6059G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.170G>C
ENST00000713544.1:c.258G>C ENSP00000518840.1:p.Val86=
ENST00000713545.1:c.258G>C ENSP00000518841.1:p.Val86=
ENST00000228606.9:c.258G>C MANE Select ENSP00000228606.4:p.Val86=
ENST00000228606.8:c.258G>C ENSP00000228606.4:p.Val86=
ENST00000546496.1:n.86G>C
ENST00000546609.1:c.170G>C
ENST00000547344.5:n.312G>C
ENST00000552186.1:n.377G>C
NM_000785.3:c.258G>C NP_000776.1:p.Val86=
NM_000785.4:c.258G>C MANE Select NP_000776.1:p.Val86=