Canonical Allele Identifier: CA2038990418
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1955356031
gnomAD v4: 12-57765908-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765908C>T , CM000674.2:g.57765908C>T GRCh38
NC_000012.11:g.58159691C>T , CM000674.1:g.58159691C>T GRCh37
NC_000012.10:g.56445958C>T NCBI36
NG_007076.1:g.6286G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.298+99G>A
ENST00000713544.1:c.386+99G>A ENSP00000518840.1:n.386+99G>A
ENST00000713545.1:c.386+99G>A ENSP00000518841.1:n.386+99G>A
ENST00000228606.9:c.386+99G>A MANE Select ENSP00000228606.4:n.386+99G>A
ENST00000228606.8:c.386+99G>A ENSP00000228606.4:n.386+99G>A
ENST00000546496.1:n.214+99G>A
ENST00000546609.1:c.298+99G>A
ENST00000547344.5:n.440+99G>A
ENST00000552186.1:n.505+99G>A
NM_000785.3:c.386+99G>A NP_000776.1:n.386+99G>A
NM_000785.4:c.386+99G>A MANE Select NP_000776.1:n.386+99G>A
Search 100 bp 5'
Search 100 bp 3'