Canonical Allele Identifier: CA2619516203
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57764653-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764653T>G , CM000674.2:g.57764653T>G GRCh38
NC_000012.11:g.58158436T>G , CM000674.1:g.58158436T>G GRCh37
NC_000012.10:g.56444703T>G NCBI36
NG_007076.1:g.7541A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1044+101A>C ENSP00000518840.1:n.1044+101A>C
ENST00000713545.1:c.1021+101A>C ENSP00000518841.1:n.1021+101A>C
ENST00000228606.9:c.963+101A>C MANE Select ENSP00000228606.4:n.963+101A>C
ENST00000228606.8:c.963+101A>C ENSP00000228606.4:n.963+101A>C
ENST00000546567.5:c.258+101A>C ENSP00000449472.1:n.258+101A>C
ENST00000547344.5:n.1102+101A>C
ENST00000547451.1:n.864A>C
NM_000785.3:c.963+101A>C NP_000776.1:n.963+101A>C
NM_000785.4:c.963+101A>C MANE Select NP_000776.1:n.963+101A>C
Search 100 bp 5'
Search 100 bp 3'