Canonical Allele Identifier: CA2619517048
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57765243-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765243G>T , CM000674.2:g.57765243G>T GRCh38
NC_000012.11:g.58159026G>T , CM000674.1:g.58159026G>T GRCh37
NC_000012.10:g.56445293G>T NCBI36
NG_007076.1:g.6951C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.502-32C>A
ENST00000713544.1:c.671-32C>A ENSP00000518840.1:n.671-32C>A
ENST00000713545.1:c.648-32C>A ENSP00000518841.1:n.648-32C>A
ENST00000228606.9:c.590-32C>A MANE Select ENSP00000228606.4:n.590-32C>A
ENST00000228606.8:c.590-32C>A ENSP00000228606.4:n.590-32C>A
ENST00000546567.5:c.-116-32C>A ENSP00000449472.1:n.-116-32C>A
ENST00000546609.1:c.502-32C>A
ENST00000547344.5:n.697C>A
ENST00000547451.1:n.390-32C>A
NM_000785.3:c.590-32C>A NP_000776.1:n.590-32C>A
NM_000785.4:c.590-32C>A MANE Select NP_000776.1:n.590-32C>A
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