Canonical Allele Identifier: CA6658230
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs752977580
ExAC: 12:58158229 A / T
gnomAD v2: 12-58158229-A-T
gnomAD v4: 12-57764446-A-T
MyVariant Identifiers: chr12:g.58158229A>T (hg19) chr12:g.57764446A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764446A>T , CM000674.2:g.57764446A>T GRCh38
NC_000012.11:g.58158229A>T , CM000674.1:g.58158229A>T GRCh37
NC_000012.10:g.56444496A>T NCBI36
NG_007076.1:g.7748T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1149T>A ENSP00000518840.1:p.Ser383Arg
ENST00000713545.1:c.*73T>A ENSP00000518841.1:n.*73T>A
ENST00000228606.9:c.1068T>A MANE Select ENSP00000228606.4:p.Ser356Arg
ENST00000228606.8:c.1068T>A ENSP00000228606.4:p.Ser356Arg
ENST00000546567.5:c.363T>A ENSP00000449472.1:p.Ser121Arg
ENST00000547344.5:n.1207T>A
NM_000785.3:c.1068T>A NP_000776.1:p.Ser356Arg
NM_000785.4:c.1068T>A MANE Select NP_000776.1:p.Ser356Arg
Search 100 bp 5'
Search 100 bp 3'