Canonical Allele Identifier: CA385501092
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1029699819
gnomAD v3: 12-57763730-G-C
gnomAD v4: 12-57763730-G-C
MyVariant Identifiers: chr12:g.58157513G>C (hg19) chr12:g.57763730G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763730G>C , CM000674.2:g.57763730G>C GRCh38
NC_000012.11:g.58157513G>C , CM000674.1:g.58157513G>C GRCh37
NC_000012.10:g.56443780G>C NCBI36
NG_007076.1:g.8464C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1375C>G ENSP00000518840.1:p.Arg459Gly
ENST00000713545.1:c.*299C>G ENSP00000518841.1:n.*299C>G
ENST00000228606.9:c.1294C>G MANE Select ENSP00000228606.4:p.Arg432Gly
ENST00000228606.8:c.1294C>G ENSP00000228606.4:p.Arg432Gly
ENST00000547344.5:n.1433C>G
NM_000785.3:c.1294C>G NP_000776.1:p.Arg432Gly
NM_000785.4:c.1294C>G MANE Select NP_000776.1:p.Arg432Gly
Search 100 bp 5'
Search 100 bp 3'