Canonical Allele Identifier: CA2039015771
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763923T= , CM000674.2:g.57763923T= GRCh38
NC_000012.11:g.58157706T= , CM000674.1:g.58157706T= GRCh37
NC_000012.10:g.56443973T= NCBI36
NG_007076.1:g.8271A=

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1297-115A= ENSP00000518840.1:n.1297-115A=
ENST00000713545.1:c.*221-115A= ENSP00000518841.1:n.*221-115A=
ENST00000228606.9:c.1216-115A= MANE Select ENSP00000228606.4:n.1216-115A=
ENST00000228606.8:c.1216-115A= ENSP00000228606.4:n.1216-115A=
ENST00000547344.5:n.1355-115A=
NM_000785.3:c.1216-115A= NP_000776.1:n.1216-115A=
NM_000785.4:c.1216-115A= MANE Select NP_000776.1:n.1216-115A=