Canonical Allele Identifier: CA385502808
Gene: CYP27B1 HGNC NCBI

Linked Data

dbSNP Id: rs1481147238
gnomAD v2: 12-58157945-A-G
gnomAD v3: 12-57764162-A-G
gnomAD v4: 12-57764162-A-G
MyVariant Identifiers: chr12:g.58157945A>G (hg19) chr12:g.57764162A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764162A>G , CM000674.2:g.57764162A>G GRCh38
NC_000012.11:g.58157945A>G , CM000674.1:g.58157945A>G GRCh37
NC_000012.10:g.56444212A>G NCBI36
NG_007076.1:g.8032T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1232T>C ENSP00000518840.1:p.Val411Ala
ENST00000713545.1:c.*156T>C ENSP00000518841.1:n.*156T>C
ENST00000228606.9:c.1151T>C MANE Select ENSP00000228606.4:p.Val384Ala
ENST00000228606.8:c.1151T>C ENSP00000228606.4:p.Val384Ala
ENST00000546567.5:c.446T>C ENSP00000449472.1:p.Val149Ala
ENST00000547344.5:n.1290T>C
NM_000785.3:c.1151T>C NP_000776.1:p.Val384Ala
NM_000785.4:c.1151T>C MANE Select NP_000776.1:p.Val384Ala
Search 100 bp 5'
Search 100 bp 3'