Canonical Allele Identifier: CA385503442
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158210C>A (hg19) chr12:g.57764427C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764427C>A , CM000674.2:g.57764427C>A GRCh38
NC_000012.11:g.58158210C>A , CM000674.1:g.58158210C>A GRCh37
NC_000012.10:g.56444477C>A NCBI36
NG_007076.1:g.7767G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1168G>T ENSP00000518840.1:p.Val390Phe
ENST00000713545.1:c.*92G>T ENSP00000518841.1:n.*92G>T
ENST00000228606.9:c.1087G>T MANE Select ENSP00000228606.4:p.Val363Phe
ENST00000228606.8:c.1087G>T ENSP00000228606.4:p.Val363Phe
ENST00000546567.5:c.382G>T ENSP00000449472.1:p.Val128Phe
ENST00000547344.5:n.1226G>T
NM_000785.3:c.1087G>T NP_000776.1:p.Val363Phe
NM_000785.4:c.1087G>T MANE Select NP_000776.1:p.Val363Phe
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