Canonical Allele Identifier: CA948106494
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1955354369
gnomAD v3: 12-57765694-C-A
gnomAD v4: 12-57765694-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765694C>A , CM000674.2:g.57765694C>A GRCh38
NC_000012.11:g.58159477C>A , CM000674.1:g.58159477C>A GRCh37
NC_000012.10:g.56445744C>A NCBI36
NG_007076.1:g.6500G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.299-195G>T
ENST00000713544.1:c.387-114G>T ENSP00000518840.1:n.387-114G>T
ENST00000713545.1:c.387-137G>T ENSP00000518841.1:n.387-137G>T
ENST00000228606.9:c.387-195G>T MANE Select ENSP00000228606.4:n.387-195G>T
ENST00000228606.8:c.387-195G>T ENSP00000228606.4:n.387-195G>T
ENST00000546496.1:n.215-195G>T
ENST00000546609.1:c.299-195G>T
ENST00000547344.5:n.441-195G>T
ENST00000552186.1:n.506-195G>T
NM_000785.3:c.387-195G>T NP_000776.1:n.387-195G>T
NM_000785.4:c.387-195G>T MANE Select NP_000776.1:n.387-195G>T
Search 100 bp 5'
Search 100 bp 3'