Canonical Allele Identifier: CA385501104
Gene: CYP27B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763736G>C , CM000674.2:g.57763736G>C GRCh38
NC_000012.11:g.58157519G>C , CM000674.1:g.58157519G>C GRCh37
NC_000012.10:g.56443786G>C NCBI36
NG_007076.1:g.8458C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1369C>G ENSP00000518840.1:p.Pro457Ala
ENST00000713545.1:c.*293C>G ENSP00000518841.1:n.*293C>G
ENST00000228606.9:c.1288C>G MANE Select ENSP00000228606.4:p.Pro430Ala
ENST00000228606.8:c.1288C>G ENSP00000228606.4:p.Pro430Ala
ENST00000547344.5:n.1427C>G
NM_000785.3:c.1288C>G NP_000776.1:p.Pro430Ala
NM_000785.4:c.1288C>G MANE Select NP_000776.1:p.Pro430Ala