Canonical Allele Identifier: CA6658143
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 522958
ClinVar RCV Id: RCV000626155 RCV001860473
dbSNP Id: rs555068245
ExAC: 12:58157432 G / A
gnomAD v2: 12-58157432-G-A
gnomAD v3: 12-57763649-G-A
gnomAD v4: 12-57763649-G-A
MyVariant Identifiers: chr12:g.58157432G>A (hg19) chr12:g.57763649G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763649G>A , CM000674.2:g.57763649G>A GRCh38
NC_000012.11:g.58157432G>A , CM000674.1:g.58157432G>A GRCh37
NC_000012.10:g.56443699G>A NCBI36
NG_007076.1:g.8545C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1456C>T ENSP00000518840.1:p.Arg486Cys
ENST00000713545.1:c.*380C>T ENSP00000518841.1:n.*380C>T
ENST00000228606.9:c.1375C>T MANE Select ENSP00000228606.4:p.Arg459Cys
ENST00000228606.8:c.1375C>T ENSP00000228606.4:p.Arg459Cys
ENST00000547344.5:n.1514C>T
NM_000785.3:c.1375C>T NP_000776.1:p.Arg459Cys
NM_000785.4:c.1375C>T MANE Select NP_000776.1:p.Arg459Cys
Search 100 bp 5'
Search 100 bp 3'