Canonical Allele Identifier: CA690329445
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1169723532
gnomAD v3: 12-57764010-G-C
gnomAD v4: 12-57764010-G-C
MyVariant Identifiers: chr12:g.58157793G>C (hg19) chr12:g.57764010G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764010G>C , CM000674.2:g.57764010G>C GRCh38
NC_000012.11:g.58157793G>C , CM000674.1:g.58157793G>C GRCh37
NC_000012.10:g.56444060G>C NCBI36
NG_007076.1:g.8184C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1296+88C>G ENSP00000518840.1:n.1296+88C>G
ENST00000713545.1:c.*220+88C>G ENSP00000518841.1:n.*220+88C>G
ENST00000228606.9:c.1215+88C>G MANE Select ENSP00000228606.4:n.1215+88C>G
ENST00000228606.8:c.1215+88C>G ENSP00000228606.4:n.1215+88C>G
ENST00000547344.5:n.1354+88C>G
NM_000785.3:c.1215+88C>G NP_000776.1:n.1215+88C>G
NM_000785.4:c.1215+88C>G MANE Select NP_000776.1:n.1215+88C>G
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