Canonical Allele Identifier: CA237814357
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs111503667
MyVariant Identifiers: chr12:g.58158358A>G (hg19) chr12:g.57764575A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764575A>G , CM000674.2:g.57764575A>G GRCh38
NC_000012.11:g.58158358A>G , CM000674.1:g.58158358A>G GRCh37
NC_000012.10:g.56444625A>G NCBI36
NG_007076.1:g.7619T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1045-25T>C ENSP00000518840.1:n.1045-25T>C
ENST00000713545.1:c.1022-25T>C ENSP00000518841.1:n.1022-25T>C
ENST00000228606.9:c.964-25T>C MANE Select ENSP00000228606.4:n.964-25T>C
ENST00000228606.8:c.964-25T>C ENSP00000228606.4:n.964-25T>C
ENST00000546567.5:c.259-25T>C ENSP00000449472.1:n.259-25T>C
ENST00000547344.5:n.1103-25T>C
ENST00000547451.1:n.942T>C
NM_000785.3:c.964-25T>C NP_000776.1:n.964-25T>C
NM_000785.4:c.964-25T>C MANE Select NP_000776.1:n.964-25T>C
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