Canonical Allele Identifier: CA385500676
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58157413A>C (hg19) chr12:g.57763630A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763630A>C , CM000674.2:g.57763630A>C GRCh38
NC_000012.11:g.58157413A>C , CM000674.1:g.58157413A>C GRCh37
NC_000012.10:g.56443680A>C NCBI36
NG_007076.1:g.8564T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1475T>G ENSP00000518840.1:p.Leu492Trp
ENST00000713545.1:c.*399T>G ENSP00000518841.1:n.*399T>G
ENST00000228606.9:c.1394T>G MANE Select ENSP00000228606.4:p.Leu465Trp
ENST00000228606.8:c.1394T>G ENSP00000228606.4:p.Leu465Trp
ENST00000547344.5:n.1533T>G
NM_000785.3:c.1394T>G NP_000776.1:p.Leu465Trp
NM_000785.4:c.1394T>G MANE Select NP_000776.1:p.Leu465Trp
Search 100 bp 5'
Search 100 bp 3'