Canonical Allele Identifier: CA480269319
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58157583G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763800G>T , CM000674.2:g.57763800G>T GRCh38
NC_000012.11:g.58157583G>T , CM000674.1:g.58157583G>T GRCh37
NC_000012.10:g.56443850G>T NCBI36
NG_007076.1:g.8394C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1305C>A ENSP00000518840.1:p.Val435=
ENST00000713545.1:c.*229C>A ENSP00000518841.1:n.*229C>A
ENST00000228606.9:c.1224C>A MANE Select ENSP00000228606.4:p.Val408=
ENST00000228606.8:c.1224C>A ENSP00000228606.4:p.Val408=
ENST00000547344.5:n.1363C>A
NM_000785.3:c.1224C>A NP_000776.1:p.Val408=
NM_000785.4:c.1224C>A MANE Select NP_000776.1:p.Val408=
Search 100 bp 5'
Search 100 bp 3'