Canonical Allele Identifier: CA385500839
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58157452T>A (hg19) chr12:g.57763669T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763669T>A , CM000674.2:g.57763669T>A GRCh38
NC_000012.11:g.58157452T>A , CM000674.1:g.58157452T>A GRCh37
NC_000012.10:g.56443719T>A NCBI36
NG_007076.1:g.8525A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1436A>T ENSP00000518840.1:p.Lys479Met
ENST00000713545.1:c.*360A>T ENSP00000518841.1:n.*360A>T
ENST00000228606.9:c.1355A>T MANE Select ENSP00000228606.4:p.Lys452Met
ENST00000228606.8:c.1355A>T ENSP00000228606.4:p.Lys452Met
ENST00000547344.5:n.1494A>T
NM_000785.3:c.1355A>T NP_000776.1:p.Lys452Met
NM_000785.4:c.1355A>T MANE Select NP_000776.1:p.Lys452Met
Search 100 bp 5'
Search 100 bp 3'