Canonical Allele Identifier: CA2619516990
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765222G>T , CM000674.2:g.57765222G>T GRCh38
NC_000012.11:g.58159005G>T , CM000674.1:g.58159005G>T GRCh37
NC_000012.10:g.56445272G>T NCBI36
NG_007076.1:g.6972C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000546609.2:n.502-11C>A
ENST00000713544.1:c.671-11C>A ENSP00000518840.1:n.671-11C>A
ENST00000713545.1:c.648-11C>A ENSP00000518841.1:n.648-11C>A
ENST00000228606.9:c.590-11C>A MANE Select ENSP00000228606.4:n.590-11C>A
ENST00000228606.8:c.590-11C>A ENSP00000228606.4:n.590-11C>A
ENST00000546567.5:c.-116-11C>A ENSP00000449472.1:n.-116-11C>A
ENST00000546609.1:c.502-11C>A
ENST00000547344.5:n.718C>A
ENST00000547451.1:n.390-11C>A
NM_000785.3:c.590-11C>A NP_000776.1:n.590-11C>A
NM_000785.4:c.590-11C>A MANE Select NP_000776.1:n.590-11C>A