Canonical Allele Identifier: CA480401644
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158211A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764428A>C , CM000674.2:g.57764428A>C GRCh38
NC_000012.11:g.58158211A>C , CM000674.1:g.58158211A>C GRCh37
NC_000012.10:g.56444478A>C NCBI36
NG_007076.1:g.7766T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1167T>G ENSP00000518840.1:p.Thr389=
ENST00000713545.1:c.*91T>G ENSP00000518841.1:n.*91T>G
ENST00000228606.9:c.1086T>G MANE Select ENSP00000228606.4:p.Thr362=
ENST00000228606.8:c.1086T>G ENSP00000228606.4:p.Thr362=
ENST00000546567.5:c.381T>G ENSP00000449472.1:p.Thr127=
ENST00000547344.5:n.1225T>G
NM_000785.3:c.1086T>G NP_000776.1:p.Thr362=
NM_000785.4:c.1086T>G MANE Select NP_000776.1:p.Thr362=
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