Canonical Allele Identifier: CA385501142
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1955337114
gnomAD v3: 12-57763754-C-G
gnomAD v4: 12-57763754-C-G
MyVariant Identifiers: chr12:g.58157537C>G (hg19) chr12:g.57763754C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763754C>G , CM000674.2:g.57763754C>G GRCh38
NC_000012.11:g.58157537C>G , CM000674.1:g.58157537C>G GRCh37
NC_000012.10:g.56443804C>G NCBI36
NG_007076.1:g.8440G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1351G>C ENSP00000518840.1:p.Glu451Gln
ENST00000713545.1:c.*275G>C ENSP00000518841.1:n.*275G>C
ENST00000228606.9:c.1270G>C MANE Select ENSP00000228606.4:p.Glu424Gln
ENST00000228606.8:c.1270G>C ENSP00000228606.4:p.Glu424Gln
ENST00000547344.5:n.1409G>C
NM_000785.3:c.1270G>C NP_000776.1:p.Glu424Gln
NM_000785.4:c.1270G>C MANE Select NP_000776.1:p.Glu424Gln
Search 100 bp 5'
Search 100 bp 3'