Canonical Allele Identifier: CA480269273
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs2140396196
MyVariant Identifiers: chr12:g.58157517T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763734T>G , CM000674.2:g.57763734T>G GRCh38
NC_000012.11:g.58157517T>G , CM000674.1:g.58157517T>G GRCh37
NC_000012.10:g.56443784T>G NCBI36
NG_007076.1:g.8460A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1371A>C ENSP00000518840.1:p.Pro457=
ENST00000713545.1:c.*295A>C ENSP00000518841.1:n.*295A>C
ENST00000228606.9:c.1290A>C MANE Select ENSP00000228606.4:p.Pro430=
ENST00000228606.8:c.1290A>C ENSP00000228606.4:p.Pro430=
ENST00000547344.5:n.1429A>C
NM_000785.3:c.1290A>C NP_000776.1:p.Pro430=
NM_000785.4:c.1290A>C MANE Select NP_000776.1:p.Pro430=
Search 100 bp 5'
Search 100 bp 3'