Canonical Allele Identifier: CA385509504
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58159955G>C (hg19) chr12:g.57766172G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766172G>C , CM000674.2:g.57766172G>C GRCh38
NC_000012.11:g.58159955G>C , CM000674.1:g.58159955G>C GRCh37
NC_000012.10:g.56446222G>C NCBI36
NG_007076.1:g.6022C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.133C>G
ENST00000713544.1:c.221C>G ENSP00000518840.1:p.Pro74Arg
ENST00000713545.1:c.221C>G ENSP00000518841.1:p.Pro74Arg
ENST00000228606.9:c.221C>G MANE Select ENSP00000228606.4:p.Pro74Arg
ENST00000228606.8:c.221C>G ENSP00000228606.4:p.Pro74Arg
ENST00000546496.1:n.49C>G
ENST00000546609.1:c.133C>G
ENST00000547344.5:n.275C>G
ENST00000552186.1:n.340C>G
NM_000785.3:c.221C>G NP_000776.1:p.Pro74Arg
NM_000785.4:c.221C>G MANE Select NP_000776.1:p.Pro74Arg
Search 100 bp 5'
Search 100 bp 3'