Canonical Allele Identifier: CA480269557
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58159903A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766120A>C , CM000674.2:g.57766120A>C GRCh38
NC_000012.11:g.58159903A>C , CM000674.1:g.58159903A>C GRCh37
NC_000012.10:g.56446170A>C NCBI36
NG_007076.1:g.6074T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.185T>G
ENST00000713544.1:c.273T>G ENSP00000518840.1:p.Pro91=
ENST00000713545.1:c.273T>G ENSP00000518841.1:p.Pro91=
ENST00000228606.9:c.273T>G MANE Select ENSP00000228606.4:p.Pro91=
ENST00000228606.8:c.273T>G ENSP00000228606.4:p.Pro91=
ENST00000546496.1:n.101T>G
ENST00000546609.1:c.185T>G
ENST00000547344.5:n.327T>G
ENST00000552186.1:n.392T>G
NM_000785.3:c.273T>G NP_000776.1:p.Pro91=
NM_000785.4:c.273T>G MANE Select NP_000776.1:p.Pro91=
Search 100 bp 5'
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