Canonical Allele Identifier: CA6658193
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs755142592
ExAC: 12:58157905 C / T
gnomAD v2: 12-58157905-C-T
gnomAD v4: 12-57764122-C-T
MyVariant Identifiers: chr12:g.58157905C>T (hg19) chr12:g.57764122C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764122C>T , CM000674.2:g.57764122C>T GRCh38
NC_000012.11:g.58157905C>T , CM000674.1:g.58157905C>T GRCh37
NC_000012.10:g.56444172C>T NCBI36
NG_007076.1:g.8072G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1272G>A ENSP00000518840.1:p.Val424=
ENST00000713545.1:c.*196G>A ENSP00000518841.1:n.*196G>A
ENST00000228606.9:c.1191G>A MANE Select ENSP00000228606.4:p.Val397=
ENST00000228606.8:c.1191G>A ENSP00000228606.4:p.Val397=
ENST00000547344.5:n.1330G>A
NM_000785.3:c.1191G>A NP_000776.1:p.Val397=
NM_000785.4:c.1191G>A MANE Select NP_000776.1:p.Val397=
Search 100 bp 5'
Search 100 bp 3'