Canonical Allele Identifier: CA385509520

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57766175-C-A
• MyVariant Identifiers: chr12:g.58159958C>A (hg19) ; chr12:g.57766175C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766175C>A , CM000674.2:g.57766175C>A	GRCh38
NC_000012.11:g.58159958C>A , CM000674.1:g.58159958C>A	GRCh37
NC_000012.10:g.56446225C>A	NCBI36
NG_007076.1:g.6019G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.130G>T
ENST00000713544.1:c.218G>T	ENSP00000518840.1:p.Gly73Val
ENST00000713545.1:c.218G>T	ENSP00000518841.1:p.Gly73Val
ENST00000228606.9:c.218G>T MANE Select	ENSP00000228606.4:p.Gly73Val
ENST00000228606.8:c.218G>T	ENSP00000228606.4:p.Gly73Val
ENST00000546496.1:n.46G>T
ENST00000546609.1:c.130G>T
ENST00000547344.5:n.272G>T
ENST00000552186.1:n.337G>T
NM_000785.3:c.218G>T	NP_000776.1:p.Gly73Val
NM_000785.4:c.218G>T MANE Select	NP_000776.1:p.Gly73Val