Canonical Allele Identifier: CA385504110
Gene: CYP27B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.58158327T>C (hg19) chr12:g.57764544T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764544T>C , CM000674.2:g.57764544T>C GRCh38
NC_000012.11:g.58158327T>C , CM000674.1:g.58158327T>C GRCh37
NC_000012.10:g.56444594T>C NCBI36
NG_007076.1:g.7650A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1051A>G ENSP00000518840.1:p.Asn351Asp
ENST00000713545.1:c.1028A>G ENSP00000518841.1:p.Gln343Arg
ENST00000228606.9:c.970A>G MANE Select ENSP00000228606.4:p.Asn324Asp
ENST00000228606.8:c.970A>G ENSP00000228606.4:p.Asn324Asp
ENST00000546567.5:c.265A>G ENSP00000449472.1:p.Asn89Asp
ENST00000547344.5:n.1109A>G
ENST00000547451.1:n.973A>G
NM_000785.3:c.970A>G NP_000776.1:p.Asn324Asp
NM_000785.4:c.970A>G MANE Select NP_000776.1:p.Asn324Asp
Search 100 bp 5'
Search 100 bp 3'