Canonical Allele Identifier: CA948105913
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1955338729
gnomAD v3: 12-57764007-G-A
gnomAD v4: 12-57764007-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764007G>A , CM000674.2:g.57764007G>A GRCh38
NC_000012.11:g.58157790G>A , CM000674.1:g.58157790G>A GRCh37
NC_000012.10:g.56444057G>A NCBI36
NG_007076.1:g.8187C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1296+91C>T ENSP00000518840.1:n.1296+91C>T
ENST00000713545.1:c.*220+91C>T ENSP00000518841.1:n.*220+91C>T
ENST00000228606.9:c.1215+91C>T MANE Select ENSP00000228606.4:n.1215+91C>T
ENST00000228606.8:c.1215+91C>T ENSP00000228606.4:n.1215+91C>T
ENST00000547344.5:n.1354+91C>T
NM_000785.3:c.1215+91C>T NP_000776.1:n.1215+91C>T
NM_000785.4:c.1215+91C>T MANE Select NP_000776.1:n.1215+91C>T
Search 100 bp 5'
Search 100 bp 3'