Canonical Allele Identifier: CA385501010
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57763709-T-G
MyVariant Identifiers: chr12:g.58157492T>G (hg19) chr12:g.57763709T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763709T>G , CM000674.2:g.57763709T>G GRCh38
NC_000012.11:g.58157492T>G , CM000674.1:g.58157492T>G GRCh37
NC_000012.10:g.56443759T>G NCBI36
NG_007076.1:g.8485A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1396A>C ENSP00000518840.1:p.Thr466Pro
ENST00000713545.1:c.*320A>C ENSP00000518841.1:n.*320A>C
ENST00000228606.9:c.1315A>C MANE Select ENSP00000228606.4:p.Thr439Pro
ENST00000228606.8:c.1315A>C ENSP00000228606.4:p.Thr439Pro
ENST00000547344.5:n.1454A>C
NM_000785.3:c.1315A>C NP_000776.1:p.Thr439Pro
NM_000785.4:c.1315A>C MANE Select NP_000776.1:p.Thr439Pro
Search 100 bp 5'
Search 100 bp 3'