Canonical Allele Identifier: CA385509415
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766157C>A , CM000674.2:g.57766157C>A GRCh38
NC_000012.11:g.58159940C>A , CM000674.1:g.58159940C>A GRCh37
NC_000012.10:g.56446207C>A NCBI36
NG_007076.1:g.6037G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.148G>T
ENST00000713544.1:c.236G>T ENSP00000518840.1:p.Ser79Ile
ENST00000713545.1:c.236G>T ENSP00000518841.1:p.Ser79Ile
ENST00000228606.9:c.236G>T MANE Select ENSP00000228606.4:p.Ser79Ile
ENST00000228606.8:c.236G>T ENSP00000228606.4:p.Ser79Ile
ENST00000546496.1:n.64G>T
ENST00000546609.1:c.148G>T
ENST00000547344.5:n.290G>T
ENST00000552186.1:n.355G>T
NM_000785.3:c.236G>T NP_000776.1:p.Ser79Ile
NM_000785.4:c.236G>T MANE Select NP_000776.1:p.Ser79Ile