Canonical Allele Identifier: CA385508241
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766125C>A , CM000674.2:g.57766125C>A GRCh38
NC_000012.11:g.58159908C>A , CM000674.1:g.58159908C>A GRCh37
NC_000012.10:g.56446175C>A NCBI36
NG_007076.1:g.6069G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.180G>T
ENST00000713544.1:c.268G>T ENSP00000518840.1:p.Ala90Ser
ENST00000713545.1:c.268G>T ENSP00000518841.1:p.Ala90Ser
ENST00000228606.9:c.268G>T MANE Select ENSP00000228606.4:p.Ala90Ser
ENST00000228606.8:c.268G>T ENSP00000228606.4:p.Ala90Ser
ENST00000546496.1:n.96G>T
ENST00000546609.1:c.180G>T
ENST00000547344.5:n.322G>T
ENST00000552186.1:n.387G>T
NM_000785.3:c.268G>T NP_000776.1:p.Ala90Ser
NM_000785.4:c.268G>T MANE Select NP_000776.1:p.Ala90Ser