Canonical Allele Identifier: CA2039016068
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1955339042
gnomAD v4: 12-57764068-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764068C>T , CM000674.2:g.57764068C>T GRCh38
NC_000012.11:g.58157851C>T , CM000674.1:g.58157851C>T GRCh37
NC_000012.10:g.56444118C>T NCBI36
NG_007076.1:g.8126G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1296+30G>A ENSP00000518840.1:n.1296+30G>A
ENST00000713545.1:c.*220+30G>A ENSP00000518841.1:n.*220+30G>A
ENST00000228606.9:c.1215+30G>A MANE Select ENSP00000228606.4:n.1215+30G>A
ENST00000228606.8:c.1215+30G>A ENSP00000228606.4:n.1215+30G>A
ENST00000547344.5:n.1354+30G>A
NM_000785.3:c.1215+30G>A NP_000776.1:n.1215+30G>A
NM_000785.4:c.1215+30G>A MANE Select NP_000776.1:n.1215+30G>A
Search 100 bp 5'
Search 100 bp 3'