Canonical Allele Identifier: CA690332364

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1305814971
• gnomAD v3: 12-57766473-TC-T
• gnomAD v4: 12-57766473-TC-T
• MyVariant Identifiers: chr12:g.58160257del (hg19) ; chr12:g.57766474del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766475del , CM000674.2:g.57766475del	GRCh38
NC_000012.11:g.58160258del , CM000674.1:g.58160258del	GRCh37
NC_000012.10:g.56446525del	NCBI36
NG_007076.1:g.5720del
NG_047060.1:g.10658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-277del
ENST00000713544.1:c.196-277del	ENSP00000518840.1:n.196-277del
ENST00000713545.1:c.196-277del	ENSP00000518841.1:n.196-277del
ENST00000228606.9:c.196-277del MANE Select	ENSP00000228606.4:n.196-277del
ENST00000228606.8:c.196-277del	ENSP00000228606.4:n.196-277del
ENST00000546609.1:c.108-277del
ENST00000547344.5:n.250-277del
ENST00000552186.1:n.38del
NM_000785.3:c.196-277del	NP_000776.1:n.196-277del
NM_000785.4:c.196-277del MANE Select	NP_000776.1:n.196-277del