Canonical Allele Identifier: CA237813579
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs549873942
gnomAD v4: 12-57763619-A-T
MyVariant Identifiers: chr12:g.58157402A>T (hg19) chr12:g.57763619A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763619A>T , CM000674.2:g.57763619A>T GRCh38
NC_000012.11:g.58157402A>T , CM000674.1:g.58157402A>T GRCh37
NC_000012.10:g.56443669A>T NCBI36
NG_007076.1:g.8575T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1486T>A ENSP00000518840.1:p.Leu496Met
ENST00000713545.1:c.*410T>A ENSP00000518841.1:n.*410T>A
ENST00000228606.9:c.1405T>A MANE Select ENSP00000228606.4:p.Leu469Met
ENST00000228606.8:c.1405T>A ENSP00000228606.4:p.Leu469Met
ENST00000547344.5:n.1544T>A
NM_000785.3:c.1405T>A NP_000776.1:p.Leu469Met
NM_000785.4:c.1405T>A MANE Select NP_000776.1:p.Leu469Met
Search 100 bp 5'
Search 100 bp 3'