Canonical Allele Identifier: CA480269220

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1955336074
• gnomAD v3: 12-57763653-C-T
• gnomAD v4: 12-57763653-C-T
• MyVariant Identifiers: chr12:g.58157436C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763653C>T , CM000674.2:g.57763653C>T	GRCh38
NC_000012.11:g.58157436C>T , CM000674.1:g.58157436C>T	GRCh37
NC_000012.10:g.56443703C>T	NCBI36
NG_007076.1:g.8541G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1452G>A	ENSP00000518840.1:p.Gly484=
ENST00000713545.1:c.*376G>A	ENSP00000518841.1:n.*376G>A
ENST00000228606.9:c.1371G>A MANE Select	ENSP00000228606.4:p.Gly457=
ENST00000228606.8:c.1371G>A	ENSP00000228606.4:p.Gly457=
ENST00000547344.5:n.1510G>A
NM_000785.3:c.1371G>A	NP_000776.1:p.Gly457=
NM_000785.4:c.1371G>A MANE Select	NP_000776.1:p.Gly457=