Canonical Allele Identifier: CA385501215
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1468541087
gnomAD v2: 12-58157572-T-A
gnomAD v4: 12-57763789-T-A
MyVariant Identifiers: chr12:g.58157572T>A (hg19) chr12:g.57763789T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763789T>A , CM000674.2:g.57763789T>A GRCh38
NC_000012.11:g.58157572T>A , CM000674.1:g.58157572T>A GRCh37
NC_000012.10:g.56443839T>A NCBI36
NG_007076.1:g.8405A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1316A>T ENSP00000518840.1:p.His439Leu
ENST00000713545.1:c.*240A>T ENSP00000518841.1:n.*240A>T
ENST00000228606.9:c.1235A>T MANE Select ENSP00000228606.4:p.His412Leu
ENST00000228606.8:c.1235A>T ENSP00000228606.4:p.His412Leu
ENST00000547344.5:n.1374A>T
NM_000785.3:c.1235A>T NP_000776.1:p.His412Leu
NM_000785.4:c.1235A>T MANE Select NP_000776.1:p.His412Leu
Search 100 bp 5'
Search 100 bp 3'