Canonical Allele Identifier: CA2038987305
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764312T= , CM000674.2:g.57764312T= GRCh38
NC_000012.11:g.58158095T= , CM000674.1:g.58158095T= GRCh37
NC_000012.10:g.56444362T= NCBI36
NG_007076.1:g.7882A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1217+66A= ENSP00000518840.1:n.1217+66A=
ENST00000713545.1:c.*141+66A= ENSP00000518841.1:n.*141+66A=
ENST00000228606.9:c.1136+66A= MANE Select ENSP00000228606.4:n.1136+66A=
ENST00000228606.8:c.1136+66A= ENSP00000228606.4:n.1136+66A=
ENST00000546567.5:c.431+66A= ENSP00000449472.1:n.431+66A=
ENST00000547344.5:n.1275+66A=
NM_000785.3:c.1136+66A= NP_000776.1:n.1136+66A=
NM_000785.4:c.1136+66A= MANE Select NP_000776.1:n.1136+66A=