Canonical Allele Identifier: CA6658167
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs760548148
ExAC: 12:58157556 C / A
gnomAD v4: 12-57763773-C-A
MyVariant Identifiers: chr12:g.58157556C>A (hg19) chr12:g.57763773C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763773C>A , CM000674.2:g.57763773C>A GRCh38
NC_000012.11:g.58157556C>A , CM000674.1:g.58157556C>A GRCh37
NC_000012.10:g.56443823C>A NCBI36
NG_007076.1:g.8421G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1332G>T ENSP00000518840.1:p.Arg444Ser
ENST00000713545.1:c.*256G>T ENSP00000518841.1:n.*256G>T
ENST00000228606.9:c.1251G>T MANE Select ENSP00000228606.4:p.Arg417Ser
ENST00000228606.8:c.1251G>T ENSP00000228606.4:p.Arg417Ser
ENST00000547344.5:n.1390G>T
NM_000785.3:c.1251G>T NP_000776.1:p.Arg417Ser
NM_000785.4:c.1251G>T MANE Select NP_000776.1:p.Arg417Ser
Search 100 bp 5'
Search 100 bp 3'