Canonical Allele Identifier: CA2038990289
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1955355546
gnomAD v4: 12-57765822-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765822G>A , CM000674.2:g.57765822G>A GRCh38
NC_000012.11:g.58159605G>A , CM000674.1:g.58159605G>A GRCh37
NC_000012.10:g.56445872G>A NCBI36
NG_007076.1:g.6372C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.298+185C>T
ENST00000713544.1:c.386+185C>T ENSP00000518840.1:n.386+185C>T
ENST00000713545.1:c.386+185C>T ENSP00000518841.1:n.386+185C>T
ENST00000228606.9:c.386+185C>T MANE Select ENSP00000228606.4:n.386+185C>T
ENST00000228606.8:c.386+185C>T ENSP00000228606.4:n.386+185C>T
ENST00000546496.1:n.214+185C>T
ENST00000546609.1:c.298+185C>T
ENST00000547344.5:n.440+185C>T
ENST00000552186.1:n.505+185C>T
NM_000785.3:c.386+185C>T NP_000776.1:n.386+185C>T
NM_000785.4:c.386+185C>T MANE Select NP_000776.1:n.386+185C>T
Search 100 bp 5'
Search 100 bp 3'