Canonical Allele Identifier: CA2619518115
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57765696-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765696G>T , CM000674.2:g.57765696G>T GRCh38
NC_000012.11:g.58159479G>T , CM000674.1:g.58159479G>T GRCh37
NC_000012.10:g.56445746G>T NCBI36
NG_007076.1:g.6498C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.299-197C>A
ENST00000713544.1:c.387-116C>A ENSP00000518840.1:n.387-116C>A
ENST00000713545.1:c.387-139C>A ENSP00000518841.1:n.387-139C>A
ENST00000228606.9:c.387-197C>A MANE Select ENSP00000228606.4:n.387-197C>A
ENST00000228606.8:c.387-197C>A ENSP00000228606.4:n.387-197C>A
ENST00000546496.1:n.215-197C>A
ENST00000546609.1:c.299-197C>A
ENST00000547344.5:n.441-197C>A
ENST00000552186.1:n.506-197C>A
NM_000785.3:c.387-197C>A NP_000776.1:n.387-197C>A
NM_000785.4:c.387-197C>A MANE Select NP_000776.1:n.387-197C>A
Search 100 bp 5'
Search 100 bp 3'