Canonical Allele Identifier: CA385503718
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158248G>C (hg19) chr12:g.57764465G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764465G>C , CM000674.2:g.57764465G>C GRCh38
NC_000012.11:g.58158248G>C , CM000674.1:g.58158248G>C GRCh37
NC_000012.10:g.56444515G>C NCBI36
NG_007076.1:g.7729C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1130C>G ENSP00000518840.1:p.Ala377Gly
ENST00000713545.1:c.*54C>G ENSP00000518841.1:n.*54C>G
ENST00000228606.9:c.1049C>G MANE Select ENSP00000228606.4:p.Ala350Gly
ENST00000228606.8:c.1049C>G ENSP00000228606.4:p.Ala350Gly
ENST00000546567.5:c.344C>G ENSP00000449472.1:p.Ala115Gly
ENST00000547344.5:n.1188C>G
NM_000785.3:c.1049C>G NP_000776.1:p.Ala350Gly
NM_000785.4:c.1049C>G MANE Select NP_000776.1:p.Ala350Gly
Search 100 bp 5'
Search 100 bp 3'