Canonical Allele Identifier: CA480269229
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1235706462
gnomAD v2: 12-58157460-G-A
gnomAD v4: 12-57763677-G-A
MyVariant Identifiers: chr12:g.58157460G>A (hg19) chr12:g.57763677G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763677G>A , CM000674.2:g.57763677G>A GRCh38
NC_000012.11:g.58157460G>A , CM000674.1:g.58157460G>A GRCh37
NC_000012.10:g.56443727G>A NCBI36
NG_007076.1:g.8517C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1428C>T ENSP00000518840.1:p.Gly476=
ENST00000713545.1:c.*352C>T ENSP00000518841.1:n.*352C>T
ENST00000228606.9:c.1347C>T MANE Select ENSP00000228606.4:p.Gly449=
ENST00000228606.8:c.1347C>T ENSP00000228606.4:p.Gly449=
ENST00000547344.5:n.1486C>T
NM_000785.3:c.1347C>T NP_000776.1:p.Gly449=
NM_000785.4:c.1347C>T MANE Select NP_000776.1:p.Gly449=
Search 100 bp 5'
Search 100 bp 3'