Canonical Allele Identifier: CA2842823152
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763871dup , CM000674.2:g.57763871dup GRCh38
NC_000012.11:g.58157654dup , CM000674.1:g.58157654dup GRCh37
NC_000012.10:g.56443921dup NCBI36
NG_007076.1:g.8324dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1297-62dup ENSP00000518840.1:n.1297-62dup
ENST00000713545.1:c.*221-62dup ENSP00000518841.1:n.*221-62dup
ENST00000228606.9:c.1216-62dup MANE Select ENSP00000228606.4:n.1216-62dup
ENST00000228606.8:c.1216-62dup ENSP00000228606.4:n.1216-62dup
ENST00000547344.5:n.1355-62dup
NM_000785.3:c.1216-62dup NP_000776.1:n.1216-62dup
NM_000785.4:c.1216-62dup MANE Select NP_000776.1:n.1216-62dup