Canonical Allele Identifier: CA480269603
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58159912C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766129C>T , CM000674.2:g.57766129C>T GRCh38
NC_000012.11:g.58159912C>T , CM000674.1:g.58159912C>T GRCh37
NC_000012.10:g.56446179C>T NCBI36
NG_007076.1:g.6065G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.176G>A
ENST00000713544.1:c.264G>A ENSP00000518840.1:p.Val88=
ENST00000713545.1:c.264G>A ENSP00000518841.1:p.Val88=
ENST00000228606.9:c.264G>A MANE Select ENSP00000228606.4:p.Val88=
ENST00000228606.8:c.264G>A ENSP00000228606.4:p.Val88=
ENST00000546496.1:n.92G>A
ENST00000546609.1:c.176G>A
ENST00000547344.5:n.318G>A
ENST00000552186.1:n.383G>A
NM_000785.3:c.264G>A NP_000776.1:p.Val88=
NM_000785.4:c.264G>A MANE Select NP_000776.1:p.Val88=