Canonical Allele Identifier: CA605706971
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1424652138
gnomAD v2: 12-58157789-T-G
gnomAD v3: 12-57764006-T-G
gnomAD v4: 12-57764006-T-G
MyVariant Identifiers: chr12:g.58157789T>G (hg19) chr12:g.57764006T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764006T>G , CM000674.2:g.57764006T>G GRCh38
NC_000012.11:g.58157789T>G , CM000674.1:g.58157789T>G GRCh37
NC_000012.10:g.56444056T>G NCBI36
NG_007076.1:g.8188A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1296+92A>C ENSP00000518840.1:n.1296+92A>C
ENST00000713545.1:c.*220+92A>C ENSP00000518841.1:n.*220+92A>C
ENST00000228606.9:c.1215+92A>C MANE Select ENSP00000228606.4:n.1215+92A>C
ENST00000228606.8:c.1215+92A>C ENSP00000228606.4:n.1215+92A>C
ENST00000547344.5:n.1354+92A>C
NM_000785.3:c.1215+92A>C NP_000776.1:n.1215+92A>C
NM_000785.4:c.1215+92A>C MANE Select NP_000776.1:n.1215+92A>C
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