Canonical Allele Identifier: CA605325529
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1312130358
gnomAD v2: 12-58160019-C-CG
gnomAD v3: 12-57766236-C-CG
gnomAD v4: 12-57766236-C-CG
MyVariant Identifiers: chr12:g.58160019_58160020insG (hg19) chr12:g.57766236_57766237insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766240dup , CM000674.2:g.57766240dup GRCh38
NC_000012.11:g.58160023dup , CM000674.1:g.58160023dup GRCh37
NC_000012.10:g.56446290dup NCBI36
NG_007076.1:g.5957dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.108-40dup
ENST00000713544.1:c.196-40dup ENSP00000518840.1:n.196-40dup
ENST00000713545.1:c.196-40dup ENSP00000518841.1:n.196-40dup
ENST00000228606.9:c.196-40dup MANE Select ENSP00000228606.4:n.196-40dup
ENST00000228606.8:c.196-40dup ENSP00000228606.4:n.196-40dup
ENST00000546496.1:n.24-40dup
ENST00000546609.1:c.108-40dup
ENST00000547344.5:n.250-40dup
ENST00000552186.1:n.275dup
NM_000785.3:c.196-40dup NP_000776.1:n.196-40dup
NM_000785.4:c.196-40dup MANE Select NP_000776.1:n.196-40dup
Search 100 bp 5'
Search 100 bp 3'