Canonical Allele Identifier: CA237817883
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1034092366
gnomAD v3: 12-57766335-C-CT
gnomAD v4: 12-57766335-C-CT
MyVariant Identifiers: chr12:g.58160118_58160119insT (hg19) chr12:g.57766335_57766336insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766338dup , CM000674.2:g.57766338dup GRCh38
NC_000012.11:g.58160121dup , CM000674.1:g.58160121dup GRCh37
NC_000012.10:g.56446388dup NCBI36
NG_007076.1:g.5858dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.108-139dup
ENST00000713544.1:c.196-139dup ENSP00000518840.1:n.196-139dup
ENST00000713545.1:c.196-139dup ENSP00000518841.1:n.196-139dup
ENST00000228606.9:c.196-139dup MANE Select ENSP00000228606.4:n.196-139dup
ENST00000228606.8:c.196-139dup ENSP00000228606.4:n.196-139dup
ENST00000546496.1:n.23+98dup
ENST00000546609.1:c.108-139dup
ENST00000547344.5:n.250-139dup
ENST00000552186.1:n.176dup
NM_000785.3:c.196-139dup NP_000776.1:n.196-139dup
NM_000785.4:c.196-139dup MANE Select NP_000776.1:n.196-139dup
Search 100 bp 5'
Search 100 bp 3'