Canonical Allele Identifier: CA385505643

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765209-T-A
• MyVariant Identifiers: chr12:g.58158992T>A (hg19) ; chr12:g.57765209T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765209T>A , CM000674.2:g.57765209T>A	GRCh38
NC_000012.11:g.58158992T>A , CM000674.1:g.58158992T>A	GRCh37
NC_000012.10:g.56445259T>A	NCBI36
NG_007076.1:g.6985A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.504A>T
ENST00000713544.1:c.673A>T	ENSP00000518840.1:p.Ile225Phe
ENST00000713545.1:c.650A>T	ENSP00000518841.1:p.His217Leu
ENST00000228606.9:c.592A>T MANE Select	ENSP00000228606.4:p.Ile198Phe
ENST00000228606.8:c.592A>T	ENSP00000228606.4:p.Ile198Phe
ENST00000546567.5:c.-114A>T	ENSP00000449472.1:n.-114A>T
ENST00000546609.1:c.504A>T
ENST00000547344.5:n.731A>T
ENST00000547451.1:n.392A>T
NM_000785.3:c.592A>T	NP_000776.1:p.Ile198Phe
NM_000785.4:c.592A>T MANE Select	NP_000776.1:p.Ile198Phe