Canonical Allele Identifier: CA385505174
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57765034-T-C
MyVariant Identifiers: chr12:g.58158817T>C (hg19) chr12:g.57765034T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765034T>C , CM000674.2:g.57765034T>C GRCh38
NC_000012.11:g.58158817T>C , CM000674.1:g.58158817T>C GRCh37
NC_000012.10:g.56445084T>C NCBI36
NG_007076.1:g.7160A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.679A>G
ENST00000713544.1:c.848A>G ENSP00000518840.1:p.Asp283Gly
ENST00000713545.1:c.825A>G ENSP00000518841.1:p.Arg275=
ENST00000228606.9:c.767A>G MANE Select ENSP00000228606.4:p.Asp256Gly
ENST00000228606.8:c.767A>G ENSP00000228606.4:p.Asp256Gly
ENST00000546567.5:c.62A>G ENSP00000449472.1:p.Asp21Gly
ENST00000546609.1:c.679A>G
ENST00000547344.5:n.906A>G
ENST00000547451.1:n.567A>G
NM_000785.3:c.767A>G NP_000776.1:p.Asp256Gly
NM_000785.4:c.767A>G MANE Select NP_000776.1:p.Asp256Gly
Search 100 bp 5'
Search 100 bp 3'