Canonical Allele Identifier: CA237813836
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs756848076
gnomAD v2: 12-58157729-C-T
gnomAD v3: 12-57763946-C-T
gnomAD v4: 12-57763946-C-T
MyVariant Identifiers: chr12:g.58157729C>T (hg19) chr12:g.57763946C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763946C>T , CM000674.2:g.57763946C>T GRCh38
NC_000012.11:g.58157729C>T , CM000674.1:g.58157729C>T GRCh37
NC_000012.10:g.56443996C>T NCBI36
NG_007076.1:g.8248G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1297-138G>A ENSP00000518840.1:n.1297-138G>A
ENST00000713545.1:c.*221-138G>A ENSP00000518841.1:n.*221-138G>A
ENST00000228606.9:c.1216-138G>A MANE Select ENSP00000228606.4:n.1216-138G>A
ENST00000228606.8:c.1216-138G>A ENSP00000228606.4:n.1216-138G>A
ENST00000547344.5:n.1355-138G>A
NM_000785.3:c.1216-138G>A NP_000776.1:n.1216-138G>A
NM_000785.4:c.1216-138G>A MANE Select NP_000776.1:n.1216-138G>A
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