Canonical Allele Identifier: CA237813799
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs550565740
gnomAD v3: 12-57763880-A-T
gnomAD v4: 12-57763880-A-T
MyVariant Identifiers: chr12:g.58157663A>T (hg19) chr12:g.57763880A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763880A>T , CM000674.2:g.57763880A>T GRCh38
NC_000012.11:g.58157663A>T , CM000674.1:g.58157663A>T GRCh37
NC_000012.10:g.56443930A>T NCBI36
NG_007076.1:g.8314T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1297-72T>A ENSP00000518840.1:n.1297-72T>A
ENST00000713545.1:c.*221-72T>A ENSP00000518841.1:n.*221-72T>A
ENST00000228606.9:c.1216-72T>A MANE Select ENSP00000228606.4:n.1216-72T>A
ENST00000228606.8:c.1216-72T>A ENSP00000228606.4:n.1216-72T>A
ENST00000547344.5:n.1355-72T>A
NM_000785.3:c.1216-72T>A NP_000776.1:n.1216-72T>A
NM_000785.4:c.1216-72T>A MANE Select NP_000776.1:n.1216-72T>A
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