Canonical Allele Identifier: CA385502666
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58157927A>T (hg19) chr12:g.57764144A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764144A>T , CM000674.2:g.57764144A>T GRCh38
NC_000012.11:g.58157927A>T , CM000674.1:g.58157927A>T GRCh37
NC_000012.10:g.56444194A>T NCBI36
NG_007076.1:g.8050T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1250T>A ENSP00000518840.1:p.Val417Asp
ENST00000713545.1:c.*174T>A ENSP00000518841.1:n.*174T>A
ENST00000228606.9:c.1169T>A MANE Select ENSP00000228606.4:p.Val390Asp
ENST00000228606.8:c.1169T>A ENSP00000228606.4:p.Val390Asp
ENST00000546567.5:c.464T>A ENSP00000449472.1:p.Val155Asp
ENST00000547344.5:n.1308T>A
NM_000785.3:c.1169T>A NP_000776.1:p.Val390Asp
NM_000785.4:c.1169T>A MANE Select NP_000776.1:p.Val390Asp
Search 100 bp 5'
Search 100 bp 3'