Canonical Allele Identifier: CA480401824
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58157965T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764182T>A , CM000674.2:g.57764182T>A GRCh38
NC_000012.11:g.58157965T>A , CM000674.1:g.58157965T>A GRCh37
NC_000012.10:g.56444232T>A NCBI36
NG_007076.1:g.8012A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1218-6A>T ENSP00000518840.1:n.1218-6A>T
ENST00000713545.1:c.*142-6A>T ENSP00000518841.1:n.*142-6A>T
ENST00000228606.9:c.1137-6A>T MANE Select ENSP00000228606.4:n.1137-6A>T
ENST00000228606.8:c.1137-6A>T ENSP00000228606.4:n.1137-6A>T
ENST00000546567.5:c.432-6A>T ENSP00000449472.1:n.432-6A>T
ENST00000547344.5:n.1276-6A>T
NM_000785.3:c.1137-6A>T NP_000776.1:n.1137-6A>T
NM_000785.4:c.1137-6A>T MANE Select NP_000776.1:n.1137-6A>T