Canonical Allele Identifier: CA690329393
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1482472901
MyVariant Identifiers: chr12:g.58157676C>T (hg19) chr12:g.57763893C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763893C>T , CM000674.2:g.57763893C>T GRCh38
NC_000012.11:g.58157676C>T , CM000674.1:g.58157676C>T GRCh37
NC_000012.10:g.56443943C>T NCBI36
NG_007076.1:g.8301G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1297-85G>A ENSP00000518840.1:n.1297-85G>A
ENST00000713545.1:c.*221-85G>A ENSP00000518841.1:n.*221-85G>A
ENST00000228606.9:c.1216-85G>A MANE Select ENSP00000228606.4:n.1216-85G>A
ENST00000228606.8:c.1216-85G>A ENSP00000228606.4:n.1216-85G>A
ENST00000547344.5:n.1355-85G>A
NM_000785.3:c.1216-85G>A NP_000776.1:n.1216-85G>A
NM_000785.4:c.1216-85G>A MANE Select NP_000776.1:n.1216-85G>A
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