Canonical Allele Identifier: CA2619515474
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57764209-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764209G>A , CM000674.2:g.57764209G>A GRCh38
NC_000012.11:g.58157992G>A , CM000674.1:g.58157992G>A GRCh37
NC_000012.10:g.56444259G>A NCBI36
NG_007076.1:g.7985C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1218-33C>T ENSP00000518840.1:n.1218-33C>T
ENST00000713545.1:c.*142-33C>T ENSP00000518841.1:n.*142-33C>T
ENST00000228606.9:c.1137-33C>T MANE Select ENSP00000228606.4:n.1137-33C>T
ENST00000228606.8:c.1137-33C>T ENSP00000228606.4:n.1137-33C>T
ENST00000546567.5:c.432-33C>T ENSP00000449472.1:n.432-33C>T
ENST00000547344.5:n.1276-33C>T
NM_000785.3:c.1137-33C>T NP_000776.1:n.1137-33C>T
NM_000785.4:c.1137-33C>T MANE Select NP_000776.1:n.1137-33C>T
Search 100 bp 5'
Search 100 bp 3'