Canonical Allele Identifier: CA480269572
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58159909A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766126A>T , CM000674.2:g.57766126A>T GRCh38
NC_000012.11:g.58159909A>T , CM000674.1:g.58159909A>T GRCh37
NC_000012.10:g.56446176A>T NCBI36
NG_007076.1:g.6068T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.179T>A
ENST00000713544.1:c.267T>A ENSP00000518840.1:p.Ala89=
ENST00000713545.1:c.267T>A ENSP00000518841.1:p.Ala89=
ENST00000228606.9:c.267T>A MANE Select ENSP00000228606.4:p.Ala89=
ENST00000228606.8:c.267T>A ENSP00000228606.4:p.Ala89=
ENST00000546496.1:n.95T>A
ENST00000546609.1:c.179T>A
ENST00000547344.5:n.321T>A
ENST00000552186.1:n.386T>A
NM_000785.3:c.267T>A NP_000776.1:p.Ala89=
NM_000785.4:c.267T>A MANE Select NP_000776.1:p.Ala89=