Canonical Allele Identifier: CA480269524
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58159885C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766102C>G , CM000674.2:g.57766102C>G GRCh38
NC_000012.11:g.58159885C>G , CM000674.1:g.58159885C>G GRCh37
NC_000012.10:g.56446152C>G NCBI36
NG_007076.1:g.6092G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.203G>C
ENST00000713544.1:c.291G>C ENSP00000518840.1:p.Leu97=
ENST00000713545.1:c.291G>C ENSP00000518841.1:p.Leu97=
ENST00000228606.9:c.291G>C MANE Select ENSP00000228606.4:p.Leu97=
ENST00000228606.8:c.291G>C ENSP00000228606.4:p.Leu97=
ENST00000546496.1:n.119G>C
ENST00000546609.1:c.203G>C
ENST00000547344.5:n.345G>C
ENST00000552186.1:n.410G>C
NM_000785.3:c.291G>C NP_000776.1:p.Leu97=
NM_000785.4:c.291G>C MANE Select NP_000776.1:p.Leu97=