Canonical Allele Identifier: CA480401717
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57764463-G-A
MyVariant Identifiers: chr12:g.58158246G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764463G>A , CM000674.2:g.57764463G>A GRCh38
NC_000012.11:g.58158246G>A , CM000674.1:g.58158246G>A GRCh37
NC_000012.10:g.56444513G>A NCBI36
NG_007076.1:g.7731C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1132C>T ENSP00000518840.1:p.Leu378=
ENST00000713545.1:c.*56C>T ENSP00000518841.1:n.*56C>T
ENST00000228606.9:c.1051C>T MANE Select ENSP00000228606.4:p.Leu351=
ENST00000228606.8:c.1051C>T ENSP00000228606.4:p.Leu351=
ENST00000546567.5:c.346C>T ENSP00000449472.1:p.Leu116=
ENST00000547344.5:n.1190C>T
NM_000785.3:c.1051C>T NP_000776.1:p.Leu351=
NM_000785.4:c.1051C>T MANE Select NP_000776.1:p.Leu351=
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