Canonical Allele Identifier: CA385500620
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763617C>G , CM000674.2:g.57763617C>G GRCh38
NC_000012.11:g.58157400C>G , CM000674.1:g.58157400C>G GRCh37
NC_000012.10:g.56443667C>G NCBI36
NG_007076.1:g.8577G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1488G>C ENSP00000518840.1:p.Leu496Phe
ENST00000713545.1:c.*412G>C ENSP00000518841.1:n.*412G>C
ENST00000228606.9:c.1407G>C MANE Select ENSP00000228606.4:p.Leu469Phe
ENST00000228606.8:c.1407G>C ENSP00000228606.4:p.Leu469Phe
ENST00000547344.5:n.1546G>C
NM_000785.3:c.1407G>C NP_000776.1:p.Leu469Phe
NM_000785.4:c.1407G>C MANE Select NP_000776.1:p.Leu469Phe