Canonical Allele Identifier: CA6658208
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs755756036
ExAC: 12:58158008 G / GC
gnomAD v2: 12-58158008-G-GC
gnomAD v3: 12-57764225-G-GC
gnomAD v4: 12-57764225-G-GC
MyVariant Identifiers: chr12:g.58158008_58158009insC (hg19) chr12:g.57764225_57764226insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764226dup , CM000674.2:g.57764226dup GRCh38
NC_000012.11:g.58158009dup , CM000674.1:g.58158009dup GRCh37
NC_000012.10:g.56444276dup NCBI36
NG_007076.1:g.7968dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1218-50dup ENSP00000518840.1:n.1218-50dup
ENST00000713545.1:c.*142-50dup ENSP00000518841.1:n.*142-50dup
ENST00000228606.9:c.1137-50dup MANE Select ENSP00000228606.4:n.1137-50dup
ENST00000228606.8:c.1137-50dup ENSP00000228606.4:n.1137-50dup
ENST00000546567.5:c.432-50dup ENSP00000449472.1:n.432-50dup
ENST00000547344.5:n.1276-50dup
NM_000785.3:c.1137-50dup NP_000776.1:n.1137-50dup
NM_000785.4:c.1137-50dup MANE Select NP_000776.1:n.1137-50dup
Search 100 bp 5'
Search 100 bp 3'