Canonical Allele Identifier: CA6658234
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1948585
ClinVar RCV Id: RCV002667850
dbSNP Id: rs151335249
ExAC: 12:58158240 G / A
gnomAD v2: 12-58158240-G-A
gnomAD v4: 12-57764457-G-A
MyVariant Identifiers: chr12:g.58158240G>A (hg19) chr12:g.57764457G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764457G>A , CM000674.2:g.57764457G>A GRCh38
NC_000012.11:g.58158240G>A , CM000674.1:g.58158240G>A GRCh37
NC_000012.10:g.56444507G>A NCBI36
NG_007076.1:g.7737C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1138C>T ENSP00000518840.1:p.Pro380Ser
ENST00000713545.1:c.*62C>T ENSP00000518841.1:n.*62C>T
ENST00000228606.9:c.1057C>T MANE Select ENSP00000228606.4:p.Pro353Ser
ENST00000228606.8:c.1057C>T ENSP00000228606.4:p.Pro353Ser
ENST00000546567.5:c.352C>T ENSP00000449472.1:p.Pro118Ser
ENST00000547344.5:n.1196C>T
NM_000785.3:c.1057C>T NP_000776.1:p.Pro353Ser
NM_000785.4:c.1057C>T MANE Select NP_000776.1:p.Pro353Ser
Search 100 bp 5'
Search 100 bp 3'