Canonical Allele Identifier: CA2038989191
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765278G= , CM000674.2:g.57765278G= GRCh38
NC_000012.11:g.58159061G= , CM000674.1:g.58159061G= GRCh37
NC_000012.10:g.56445328G= NCBI36
NG_007076.1:g.6916C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.501+19C=
ENST00000713544.1:c.670+19C= ENSP00000518840.1:n.670+19C=
ENST00000713545.1:c.647+19C= ENSP00000518841.1:n.647+19C=
ENST00000228606.9:c.589+19C= MANE Select ENSP00000228606.4:n.589+19C=
ENST00000228606.8:c.589+19C= ENSP00000228606.4:n.589+19C=
ENST00000546567.5:c.-117+19C= ENSP00000449472.1:n.-117+19C=
ENST00000546609.1:c.501+19C=
ENST00000547344.5:n.662C=
ENST00000547451.1:n.389+19C=
NM_000785.3:c.589+19C= NP_000776.1:n.589+19C=
NM_000785.4:c.589+19C= MANE Select NP_000776.1:n.589+19C=