Canonical Allele Identifier: CA385503520
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158222G>C (hg19) chr12:g.57764439G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764439G>C , CM000674.2:g.57764439G>C GRCh38
NC_000012.11:g.58158222G>C , CM000674.1:g.58158222G>C GRCh37
NC_000012.10:g.56444489G>C NCBI36
NG_007076.1:g.7755C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1156C>G ENSP00000518840.1:p.Pro386Ala
ENST00000713545.1:c.*80C>G ENSP00000518841.1:n.*80C>G
ENST00000228606.9:c.1075C>G MANE Select ENSP00000228606.4:p.Pro359Ala
ENST00000228606.8:c.1075C>G ENSP00000228606.4:p.Pro359Ala
ENST00000546567.5:c.370C>G ENSP00000449472.1:p.Pro124Ala
ENST00000547344.5:n.1214C>G
NM_000785.3:c.1075C>G NP_000776.1:p.Pro359Ala
NM_000785.4:c.1075C>G MANE Select NP_000776.1:p.Pro359Ala
Search 100 bp 5'
Search 100 bp 3'